Ausgabe 1/2013
Inhalt (199 Artikel)
A diverse array of genetic factors contribute to the pathogenesis of Systemic Lupus Erythematosus
Nicki Tiffin, Adebowale Adeyemo, Ikechi Okpechi
Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria
Michela Barbaro, Maire Kotajärvi, Pauline Harper, Ylva Floderus
Recommendations for the management of tyrosinaemia type 1
Corinne de Laet, Carlo Dionisi-Vici, James V Leonard, Patrick McKiernan, Grant Mitchell, Lidia Monti, Hélène Ogier de Baulny, Guillem Pintos-Morell, Ute Spiekerkötter
Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell lines
Heidi M Sampson, Hung Lam, Pei-Chun Chen, Donglei Zhang, Cristina Mottillo, Myriam Mirza, Karim Qasim, Alvin Shrier, Show-Ling Shyng, John W Hanrahan, David Y Thomas
Disease and patient characteristics in NP-C patients: findings from an international disease registry
Marc C Patterson, Eugen Mengel, Frits A Wijburg, Audrey Muller, Barbara Schwierin, Harir Drevon, Marie T Vanier, Mercé Pineda
Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics
Shinsuke Fujioka, Christina Sundal, Zbigniew K Wszolek
Syndromic diarrhea/Tricho-hepato-enteric syndrome
Alexandre Fabre, Christine Martinez-Vinson, Olivier Goulet, Catherine Badens
MicroRNAs at the human 14q32 locus have prognostic significance in osteosarcoma
Aaron L Sarver, Venugopal Thayanithy, Milcah C Scott, Anne-Marie Cleton-Jansen, Pancras CW Hogendoorn, Jaime F Modiano, Subbaya Subramanian
Malignant atrophic papulosis (Köhlmeier-Degos disease) - A review
Athanasios Theodoridis, Evgenia Makrantonaki, Christos C Zouboulis
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing
Kristoffer Haugarvoll, Stefan Johansson, Charalampos Tzoulis, Bjørn Ivar Haukanes, Cecilie Bredrup, Gesche Neckelmann, Helge Boman, Per Morten Knappskog, Laurence A Bindoff
Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures
Paris Jafari, Olivier Braissant, Petra Zavadakova, Hugues Henry, Luisa Bonafé, Diana Ballhausen
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
Ivana Peluso, Ivan Conte, Francesco Testa, Gopuraja Dharmalingam, Mariateresa Pizzo, Rob WJ Collin, Nicola Meola, Sara Barbato, Margherita Mutarelli, Carmela Ziviello, Anna Maria Barbarulo, Vincenzo Nigro, Mariarosa AB Melone, Francesca Simonelli, Sandro Banfi
Neuro-Behçet’s disease in childhood: A focus on the neuro-ophthalmological features
Paolo Mora, Chiara Menozzi, Jelka G Orsoni, Pierangela Rubino, Livia Ruffini, Arturo Carta
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease
Huiwen Zhang, Yu Wang, Zhuwen Gong, Xiaoyan Li, Wenjuan Qiu, Lianshu Han, Jun Ye, Xuefan Gu
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
Sarah C Grünert, Stephanie Müllerleile, Linda De Silva, Michael Barth, Melanie Walter, Kerstin Walter, Thomas Meissner, Martin Lindner, Regina Ensenauer, René Santer, Olaf A Bodamer, Matthias R Baumgartner, Michaela Brunner-Krainz, Daniela Karall, Claudia Haase, Ina Knerr, Thorsten Marquardt, Julia B Hennermann, Robert Steinfeld, Skadi Beblo, Hans-Georg Koch, Vassiliki Konstantopoulou, Sabine Scholl-Bürgi, Agnes van Teeffelen-Heithoff, Terttu Suormala, Wolfgang Sperl, Jan P Kraus, Andrea Superti-Furga, Karl Otfried Schwab, Jörn Oliver Sass
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy
Filippo Maria Santorelli, Barbara Garavaglia, Francesco Cardona, Nardo Nardocci, Bernardo Dalla Bernardina, Stefano Sartori, Agnese Suppiej, Enrico Bertini, Dianela Claps, Roberta Battini, Roberta Biancheri, Mirella Filocamo, Francesco Pezzini, Alessandro Simonati
Systematic review of central nervous system anomalies in incontinentia pigmenti
Snežana Minić, Dušan Trpinac, Miljana Obradović
Passive transfer of collagen XVII-specific antibodies induces sustained blistering disease in adult mice
Mircea Teodor Chiriac, Emilia Licarete, Alexandra Gabriela Sas, Andreea Maria Rados, Iulia Lupan, Anca Mirela Chiriac, Hilda Speth, Vlad Pop-Vancia, Iacob Domsa, Alina Sesarman, Octavian Popescu, Cassian Sitaru
Barth syndrome
Sarah LN Clarke, Ann Bowron, Iris L Gonzalez, Sarah J Groves, Ruth Newbury-Ecob, Nicol Clayton, Robin P Martin, Beverly Tsai-Goodman, Vanessa Garratt, Michael Ashworth, Valerie M Bowen, Katherine R McCurdy, Michaela K Damin, Carolyn T Spencer, Matthew J Toth, Richard I Kelley, Colin G Steward
Brain involvement in Alström syndrome
Valentina Citton, Angela Favaro, Vera Bettini, Joseph Gabrieli, Gabriella Milan, Nella Augusta Greggio, Jan D Marshall, Jürgen K Naggert, Renzo Manara, Pietro Maffei
Guideline of transthyretin-related hereditary amyloidosis for clinicians
Yukio Ando, Teresa Coelho, John L Berk, Márcia Waddington Cruz, Bo-Göran Ericzon, Shu-ichi Ikeda, W David Lewis, Laura Obici, Violaine Planté-Bordeneuve, Claudio Rapezzi, Gerard Said, Fabrizio Salvi
Clinical pathways for inborn errors of metabolism: warranted and feasible
Serwet Demirdas, Imke N van Kessel, Marjolein J Korndewal, Carla EM Hollak, Hanka Meutgeert, Anja Klaren, Margreet van Rijn, Francjan J van Spronsen, Annet M Bosch
Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome
Sara Luscieti, Gabriele Tolle, Jessica Aranda, Carmen Benet Campos, Frank Risse, Érica Morán, Martina U Muckenthaler, Mayka Sánchez
Cost of illness and economic burden of chronic lymphocytic leukemia
Carl Rudolf Blankart, Taika Koch, Roland Linder, Frank Verheyen, Jonas Schreyögg, Tom Stargardt
Cost-effectiveness of enzyme replacement therapy for Fabry disease
Saskia M Rombach, Carla EM Hollak, Gabor E Linthorst, Marcel GW Dijkgraaf
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
Smail Hadj-Rabia, Bert L Callewaert, Emmanuelle Bourrat, Marlies Kempers, Astrid S Plomp, Valerie Layet, Deborah Bartholdi, Marjolijn Renard, Julie De Backer, Fransiska Malfait, Olivier M Vanakker, Paul J Coucke, Anne M De Paepe, Christine Bodemer
Can network biology unravel the aetiology of congenital hyperinsulinism?
Adam Stevens, Karen E Cosgrove, Raja Padidela, Mars S Skae, Peter E Clayton, Indraneel Banerjee, Mark J Dunne
Impact of Friedreich’s Ataxia on health-care resource utilization in the United Kingdom and Germany
Paola Giunti, Julia Greenfield, Alison J Stevenson, Michael H Parkinson, Jodie L Hartmann, Ruediger Sandtmann, James Piercy, Jamie O’Hara, Leo Ruiz Casas, Fiona M Smith
A possible cranio-oro-facial phenotype in Cockayne syndrome
Agnès Bloch-Zupan, Morgan Rousseaux, Virginie Laugel, Matthieu Schmittbuhl, Rémy Mathis, Emmanuelle Desforges, Mériam Koob, Ariane Zaloszyc, Hélène Dollfus, Vincent Laugel
New clinical and molecular insights on Barth syndrome
Lorenzo Ferri, Maria Alice Donati, Silvia Funghini, Sabrina Malvagia, Serena Catarzi, Licia Lugli, Luca Ragni, Enrico Bertini, Frédéréc M Vaz, David N Cooper, Renzo Guerrini, Amelia Morrone
Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support
Matilda Anderson, Elizabeth J Elliott, Yvonne A Zurynski
Family burden in inherited ichthyosis: creation of a specific questionnaire
Hélène Dufresne, Smail Hadj-Rabia, Cécile Méni, Vincent Sibaud, Christine Bodemer, Charles Taïeb
Assessment and management of pulmonary alveolar proteinosis in a reference center
Ilaria Campo, Francesca Mariani, Giuseppe Rodi, Elena Paracchini, Eric Tsana, Davide Piloni, Isabella Nobili, Zamir Kadija, Angelo Corsico, Isa Cerveri, Claudia Chalk, Bruce C Trapnell, Antonio Braschi, Carmine Tinelli, Maurizio Luisetti
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum
Matthis Synofzik, Anne S Soehn, Janina Gburek-Augustat, Julia Schicks, Kathrin N Karle, Rebecca Schüle, Tobias B Haack, Martin Schöning, Saskia Biskup, Sabine Rudnik-Schöneborn, Jan Senderek, Karl-Titus Hoffmann, Patrick MacLeod, Johannes Schwarz, Benjamin Bender, Stefan Krüger, Friedmar Kreuz, Peter Bauer, Ludger Schöls
In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes
Catharina ML Touw, G Peter A Smit, Klary E Niezen-Koning, Conny Bosgraaf-de Boer, Albert Gerding, Dirk-Jan Reijngoud, Terry GJ Derks
Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease
James D Weisfeld-Adams, Lakshmi Mehta, Janet C Rucker, Francine R Dembitzer, Arnold Szporn, Fred D Lublin, Wendy J Introne, Vikas Bhambhani, Michael C Chicka, Catherine Cho
Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome)
Young Bae Sohn, Sung Yoon Cho, Sung Won Park, Su Jin Kim, Ah-Ra Ko, Eun-Kyung Kwon, Sun Ju Han, Dong-Kyu Jin
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial
Maggie C Walter, Peter Reilich, Simone Thiele, Joachim Schessl, Herbert Schreiber, Karlheinz Reiners, Wolfram Kress, Clemens Müller-Reible, Matthias Vorgerd, Peter Urban, Bertold Schrank, Marcus Deschauer, Beate Schlotter-Weigel, Ralf Kohnen, Hanns Lochmüller
Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study
Deniz Güngör, Michelle E Kruijshaar, Iris Plug, Ralph B D’Agostino, Marloes LC Hagemans, Pieter A van Doorn, Arnold JJ Reuser, Ans T van der Ploeg
Differences between sporadic and MEN related primary hyperparathyroidism; clinical expression, preoperative workup, operative strategy and follow-up
Bas A Twigt, Anouk Scholten, Gerlof D Valk, Inne HM Borel Rinkes, Menno R Vriens
Serum KL-6 is a predictor of outcome in pulmonary alveolar proteinosis
Francesco Bonella, Shinichiro Ohshimo, Cai Miaotian, Matthias Griese, Josune Guzman, Ulrich Costabel
Mutational spectrum of the APC and MUTYH genes and genotype–phenotype correlations in Brazilian FAP, AFAP, and MAP patients
Giovana Tardin Torrezan, Felipe Cavalcanti Carneiro da Silva, Érika Maria Monteiro Santos, Ana Cristina Victorino Krepischi, Maria Isabel Waddington Achatz, Samuel Aguiar Junior, Benedito Mauro Rossi, Dirce Maria Carraro
Genetic basis of hyperlysinemia
Sander M Houten, Heleen te Brinke, Simone Denis, Jos PN Ruiter, Alida C Knegt, Johannis BC de Klerk, Persephone Augoustides-Savvopoulou, Johannes Häberle, Matthias R Baumgartner, Turgay Coşkun, Johannes Zschocke, Jörn Oliver Sass, Bwee Tien Poll-The, Ronald JA Wanders, Marinus Duran
Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain
Saskia M Rombach, Bouwien E Smid, Machtelt G Bouwman, Gabor E Linthorst, Marcel G W Dijkgraaf, Carla E M Hollak
SMA-EUROPE workshop report: opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe
Nathalie Kayadjanian, Arthur Burghes, Richard S Finkel, Eugenio Mercuri, Francoise Rouault, Inge Schwersenz, Kevin Talbot
Small cell ovarian carcinoma: genomic stability and responsiveness to therapeutics
Lisa F Gamwell, Karen Gambaro, Maria Merziotis, Colleen Crane, Suzanna L Arcand, Valerie Bourada, Christopher Davis, Jeremy A Squire, David G Huntsman, Patricia N Tonin, Barbara C Vanderhyden
Experimental designs for small randomised clinical trials: an algorithm for choice
Catherine Cornu, Behrouz Kassai, Roland Fisch, Catherine Chiron, Corinne Alberti, Renzo Guerrini, Anna Rosati, Gerard Pons, Harm Tiddens, Sylvie Chabaud, Daan Caudri, Clément Ballot, Polina Kurbatova, Anne-Charlotte Castellan, Agathe Bajard, Patrice Nony
Effective treatment of malignant atrophic papulosis (Köhlmeier-Degos disease) with treprostinil – early experience
Lee S Shapiro, Aixa E Toledo-Garcia, Jessica F Farrell
Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)
Harumasa Nakamura, En Kimura, Madoka Mori-Yoshimura, Hirofumi Komaki, Yu Matsuda, Kanako Goto, Yukiko K Hayashi, Ichizo Nishino, Shin‘ichi Takeda, Mitsuru Kawai
Prioritization of therapy uncertainties in Dystrophic Epidermolysis Bullosa: where should research direct to? an example of priority setting partnership in very rare disorders
Paula Davila-Seijo, Angela Hernández-Martín, Evanina Morcillo-Makow, Raúlde Lucas, Esther Domínguez, Natividad Romero, Eva Monrós, Marta Feito, Luis Carretero, Bea Aranegui, Ignacio García-Doval
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
Tuva Barøy, Doriana Misceo, Petter Strømme, Asbjørg Stray-Pedersen, Asbjørn Holmgren, Olaug Kristin Rødningen, Anne Blomhoff, Johan Robert Helle, Alice Stormyr, Bjørn Tvedt, Madeleine Fannemel, Eirik Frengen
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase
Marion M Brands, Marianne Hoogeveen-Westerveld, Marian A Kroos, Willemieke Nobel, George J Ruijter, Lale Özkan, Iris Plug, Daniel Grinberg, Lluïsa Vilageliu, Dicky J Halley, Ans T van der Ploeg, Arnold J Reuser
miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors
Naoe Harafuji, Peter Schneiderat, Maggie C Walter, Yi-Wen Chen
Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation
Lina Issa, Katrin Mueller, Katja Seufert, Nadine Kraemer, Henning Rosenkotter, Olaf Ninnemann, Michael Buob, Angela M Kaindl, Deborah J Morris-Rosendahl
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
Marta Corton, Sorina D Tatu, Almudena Avila-Fernandez, Elena Vallespín, Ignacio Tapias, Diego Cantalapiedra, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Sara Bernal, Blanca García-Sandoval, Montserrat Baiget, Carmen Ayuso
Intellectual disability associated with a homozygous missense mutation in THOC6
Chandree L Beaulieu, Lijia Huang, A Micheil Innes, Marie-Andree Akimenko, Erik G Puffenberger, Charles Schwartz, Paul Jerry, Carole Ober, Robert A Hegele, D Ross McLeod, Jeremy Schwartzentruber, Jacek Majewski, Dennis E Bulman, Jillian S Parboosingh, Kym M Boycott
A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient’s skin
Natascha Bergamin, Andrea Dardis, Antonio Beltrami, Daniela Cesselli, Silvia Rigo, Stefania Zampieri, Rossana Domenis, Bruno Bembi, Carlo Alberto Beltrami
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators
Miriam Stampfer, Susanne Theiss, Yasmina Amraoui, Xuntian Jiang, Sigrid Keller, Daniel S Ory, Eugen Mengel, Christine Fischer, Heiko Runz
Immune response profiling identifies autoantibodies specific to Moyamoya patients
Tara K Sigdel, Lorelei D Shoemaker, Rong Chen, Li Li, Atul J Butte, Minnie M Sarwal, Gary K Steinberg
Phenotypic characteristics of early Wolfram syndrome
Bess A Marshall, M Alan Permutt, Alexander R Paciorkowski, James Hoekel, Roanne Karzon, Jon Wasson, Amy Viehover, Neil H White, Joshua S Shimony, Linda Manwaring, Paul Austin, Timothy E Hullar, Tamara Hershey
Lupus enteritis: from clinical findings to therapeutic management
Peter Janssens, Laurent Arnaud, Lionel Galicier, Alexis Mathian, Miguel Hie, Damien Sene, Julien Haroche, Catherine Veyssier-Belot, Isabelle Huynh-Charlier, Philippe A Grenier, Jean-Charles Piette, Zahir Amoura
Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations
Marco Ritelli, Chiara Dordoni, Marina Venturini, Nicola Chiarelli, Stefano Quinzani, Michele Traversa, Nicoletta Zoppi, Annalisa Vascellaro, Anita Wischmeijer, Emanuela Manfredini, Livia Garavelli, Piergiacomo Calzavara-Pinton, Marina Colombi
Clinicopathological study of glomerular diseases associated with sarcoidosis: a multicenter study
Thomas Stehlé, Dominique Joly, Philippe Vanhille, Jean-Jacques Boffa, Philippe Rémy, Laurent Mesnard, Maxime Hoffmann, Philippe Grimbert, Gabriel Choukroun, François Vrtovsnik, Jérôme Verine, Dominique Desvaux, Francine Walker, Philippe Lang, Matthieu Mahevas, Dil Sahali, Vincent Audard
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant
Laura Melchionda, Mingyan Fang, Hairong Wang, Valeria Fugnanesi, Michela Morbin, Xuanzhu Liu, Wenyan Li, Isabella Ceccherini, Laura Farina, Mario Savoiardo, Pio D’Adamo, Jianguo Zhang, Alfredo Costa, Sabrina Ravaglia, Daniele Ghezzi, Massimo Zeviani
Topical diacerein for epidermolysis bullosa: a randomized controlled pilot study
Verena Wally, Sophie Kitzmueller, Florian Lagler, Angelika Moder, Wolfgang Hitzl, Martin Wolkersdorfer, Peter Hofbauer, Thomas K Felder, Michael Dornauer, Anja Diem, Nora Eiler, Johann W Bauer
Natural history of Barth syndrome: a national cohort study of 22 patients
Charlotte Rigaud, Anne-Sophie Lebre, Renaud Touraine, Blandine Beaupain, Chris Ottolenghi, Allel Chabli, Helene Ansquer, Hulya Ozsahin, Sylvie Di Filippo, Pascale De Lonlay, Betina Borm, Francois Rivier, Marie-Catherine Vaillant, Michèle Mathieu-Dramard, Alice Goldenberg, Géraldine Viot, Philippe Charron, Marlene Rio, Damien Bonnet, Jean Donadieu
Erratum to: Disease and patient characteristics in NP-C patients: findings from an international disease registry
Marc C Patterson, Eugen Mengel, Frits A Wijburg, Audrey Muller, Barbara Schwierin, Harir Drevon, Marie T Vanier, Mercé Pineda
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
Sarah M Nikkel, Andrew Dauber, Sonja de Munnik, Meghan Connolly, Rebecca L Hood, Oana Caluseriu, Jane Hurst, Usha Kini, Malgorzata J M Nowaczyk, Alexandra Afenjar, Beate Albrecht, Judith E Allanson, Paolo Balestri, Tawfeg Ben-Omran, Francesco Brancati, Isabel Cordeiro, Bruna Santos da Cunha, Louisa A Delaney, Anne Destrée, David Fitzpatrick, Francesca Forzano, Neeti Ghali, Greta Gillies, Katerina Harwood, Yvonne M C Hendriks, Delphine Héron, Alexander Hoischen, Engela Magdalena Honey, Lies H Hoefsloot, Jennifer Ibrahim, Claire M Jacob, Sarina G Kant, Chong Ae Kim, Edwin P Kirk, Nine V A M Knoers, Didier Lacombe, Chung Lee, Ivan F M Lo, Luiza S Lucas, Francesca Mari, Veronica Mericq, Jukka S Moilanen, Sanne Traasdahl Møller, Stephanie Moortgat, Daniela T Pilz, Kate Pope, Susan Price, Alessandra Renieri, Joaquim Sá, Jeroen Schoots, Elizabeth L Silveira, Marleen E H Simon, Anne Slavotinek, I Karen Temple, Ineke van der Burgt, Bert B A de Vries, James D Weisfeld-Adams, Margo L Whiteford, Dagmar Wierczorek, Jan M Wit, Connie Fung On Yee, Chandree L Beaulieu, Sue M White, Dennis E Bulman, Ernie Bongers, Han Brunner, Murray Feingold, Kym M Boycott
Brittle cornea syndrome: recognition, molecular diagnosis and management
Emma MM Burkitt Wright, Louise F Porter, Helen L Spencer, Jill Clayton-Smith, Leon Au, Francis L Munier, Sarah Smithson, Mohnish Suri, Marianne Rohrbach, Forbes DC Manson, Graeme CM Black
A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease
Neil V Morgan, Jane L Hartley, Kenneth DR Setchell, Michael A Simpson, Rachel Brown, Louise Tee, Sian Kirkham, Shanaz Pasha, Richard C Trembath, Eamonn R Maher, Paul Gissen, Deirdre A Kelly
The internet user profile of Italian families of patients with rare diseases: a web survey
Alberto E Tozzi, Rita Mingarelli, Eleonora Agricola, Michaela Gonfiantini, Elisabetta Pandolfi, Emanuela Carloni, Francesco Gesualdo, Bruno Dallapiccola
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome
Fransiska Malfait, Sofie Symoens, Nathalie Goemans, Yolanda Gyftodimou, Eva Holmberg, Vanesa López-González, Geert Mortier, Sheela Nampoothiri, Michael Bjorn Petersen, Anne De Paepe
Olmsted syndrome: exploration of the immunological phenotype
Dina Danso-Abeam, Jianguo Zhang, James Dooley, Kim A Staats, Lien Van Eyck, Thomas Van Brussel, Shari Zaman, Esther Hauben, Marc Van de Velde, Marie-Anne Morren, Marleen Renard, Christel Van Geet, Heidi Schaballie, Diether Lambrechts, Jinsheng Tao, Dean Franckaert, Stephanie Humblet-Baron, Isabelle Meyts, Adrian Liston
Management of adult patients with Langerhans cell histiocytosis: recommendations from an expert panel on behalf of Euro-Histio-Net
Michael Girschikofsky, Maurizio Arico, Diego Castillo, Anthony Chu, Claus Doberauer, Joachim Fichter, Julien Haroche, Gregory A Kaltsas, Polyzois Makras, Angelo V Marzano, Mathilde de Menthon, Oliver Micke, Emanuela Passoni, Heinrich M Seegenschmiedt, Abdellatif Tazi, Kenneth L McClain
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions
Alessandro Ferraris, Laura Bernardini, Vesna Sabolic Avramovska, Ginevra Zanni, Sara Loddo, Elena Sukarova-Angelovska, Valentina Parisi, Anna Capalbo, Stefano Tumini, Lorena Travaglini, Francesca Mancini, Filip Duma, Sabina Barresi, Antonio Novelli, Eugenio Mercuri, Luigi Tarani, Enrico Bertini, Bruno Dallapiccola, Enza Maria Valente
Behçet’s disease: new insight into the relationship between procoagulant state, endothelial activation/damage and disease activity
Ihosvany Fernández-Bello, Francisco J López-Longo, Elena G Arias-Salgado, Víctor Jiménez-Yuste, Nora V Butta
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
Mathieu Milh, Nadia Boutry-Kryza, Julie Sutera-Sardo, Cyril Mignot, Stéphane Auvin, Caroline Lacoste, Nathalie Villeneuve, Agathe Roubertie, Bénédicte Heron, Maryline Carneiro, Anna Kaminska, Cécilia Altuzarra, Gaëlle Blanchard, Dorothée Ville, Marie Anne Barthez, Delphine Heron, Domitille Gras, Alexandra Afenjar, Nathalie Dorison, Dianne Doummar, Thierry Billette de Villemeur, Isabelle An, Aurélia Jacquette, Perrine Charles, Julie Perrier, Bertrand Isidor, Laurent Vercueil, Brigitte Chabrol, Catherine Badens, Gaétan Lesca, Laurent Villard
Disease-modifying factors in hereditary angioedema: an RNA expression-based screening
Alberto López-Lera, Fátima Sánchez Cabo, Sofía Garrido, Ana Dopazo, Margarita López-Trascasa
Monoclonal antibodies to 65kDa glutamate decarboxylase induce epitope specific effects on motor and cognitive functions in rats
Christiane S Hampe, Laura Petrosini, Paola De Bartolo, Paola Caporali, Debora Cutuli, Daniela Laricchiuta, Francesca Foti, Jared R Radtke, Veronika Vidova, Jérôme Honnorat, Mario Manto
Erratum to: Reconstructive management of the rare bilateral oral submucos fibrosisusing nasolabial flap in comparison with free radial forearm flap - a randomisedprospective trial
Muhammad Faisal, Madiha Rana, Anjum Shaheen, Riaz Warraich, Horst Kokemueller, André Michael Eckardt, Nils-Claudius Gellrich, Majeed Rana
Natural history of alpha mannosidosis a longitudinal study
Michael Beck, Klaus J Olsen, James E Wraith, Jiri Zeman, Jean-Claude Michalski, Paul Saftig, Jens Fogh, Dag Malm
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases
Majid Alfadhel, Makki Almuntashri, Raafat H Jadah, Fahad A Bashiri, Muhammad Talal Al Rifai, Hisham Al Shalaan, Mohammed Al Balwi, Ahmed Al Rumayan, Wafaa Eyaid, Waleed Al-Twaijri
Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy
Sean N Prater, Trusha T Patel, Anne F Buckley, Hanna Mandel, Eugene Vlodavski, Suhrad G Banugaria, Erin J Feeney, Nina Raben, Priya S Kishnani
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy
Teresa Esposito, Simone Sampaolo, Giuseppe Limongelli, Antonio Varone, Daniela Formicola, Daria Diodato, Olimpia Farina, Filomena Napolitano, Giuseppe Pacileo, Fernando Gianfrancesco, Giuseppe Di Iorio
Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses
Hsiang-Yu Lin, Shou-Chuan Shih, Chih-Kuang Chuang, Ming-Ren Chen, Dau-Ming Niu, Shuan-Pei Lin
Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study
Encarna Guillén-Navarro, María Rosario Domingo-Jiménez, Carlos Alcalde-Martín, Ramón Cancho-Candela, María Luz Couce, Enrique Galán-Gómez, Olga Alonso-Luengo
HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis
Andreas Lux, Ralf Müller, Mark Tulk, Carla Olivieri, Roberto Zarrabeita, Theresia Salonikios, Bernhard Wirnitzer
Aggressive mature natural killer cell neoplasms: from epidemiology todiagnosis
Margarida Lima
Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing
Tao Yang, Xiaoming Wei, Yongchuan Chai, Lei Li, Hao Wu
Metabolite analysis distinguishes between mice with epidermolysis bullosa acquisita and healthy mice
Sarah Schönig, Andreas Recke, Misa Hirose, Ralf J Ludwig, Karsten Seeger
SURF1 deficiency: a multi-centre natural history study
Yehani Wedatilake, Ruth M Brown, Robert McFarland, Joy Yaplito-Lee, Andrew A M Morris, Mike Champion, Phillip E Jardine, Antonia Clarke, David R Thorburn, Robert W Taylor, John M Land, Katharine Forrest, Angus Dobbie, Louise Simmons, Erlend T Aasheim, David Ketteridge, Donncha Hanrahan, Anupam Chakrapani, Garry K Brown, Shamima Rahman
Mutations in ALDH6A1encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria
Julien L Marcadier, Amanda M Smith, Daniela Pohl, Jeremy Schwartzentruber, Osama Y Al-Dirbashi, Jacek Majewski, Sacha Ferdinandusse, Ronald JA Wanders, Dennis E Bulman, Kym M Boycott, Pranesh Chakraborty, Michael T Geraghty
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life
Sandra DK Kingma, Eveline J Langereis, Clasine M de Klerk, Lida Zoetekouw, Tom Wagemans, Lodewijk IJlst, Ronald JA Wanders, Frits A Wijburg, Naomi van Vlies
Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2
Jiadi Wen, Fátima Lopes, Gabriela Soares, Sandra A Farrell, Cara Nelson, Ying Qiao, Sally Martell, Chansonette Badukke, Carlos Bessa, Bauke Ylstra, Suzanne Lewis, Nina Isoherranen, Patricia Maciel, Evica Rajcan-Separovic
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype
Karen Anjema, Margreet van Rijn, Floris C Hofstede, Annet M Bosch, Carla EM Hollak, Estela Rubio-Gozalbo, Maaike C de Vries, Mirian CH Janssen, Carolien CA Boelen, Johannes GM Burgerhof, Nenad Blau, M Rebecca Heiner-Fokkema, Francjan J van Spronsen
Reconstructive management of the rare bilateral oral submucos fibrosis using nasolabial flap in comparison with free radial forearm flap - a randomised prospective trial
Muhammad Faisal, Madiha Rana, Anjum Shaheen, Riaz Warraich, Horst Kokemueller, André Michael Eckardt, Nils-Claudius Gellrich, Majeed Rana
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3mutations
Siddharth Banka, William G Newman
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency
Maria Luz Couce, Paula Sánchez-Pintos, Luisa Diogo, Elisa Leão-Teles, Esmeralda Martins, Helena Santos, Maria Amor Bueno, Carmen Delgado-Pecellín, Daisy E Castiñeiras, José A Cocho, Judit García-Villoria, Antonia Ribes, José M Fraga, Hugo Rocha
Fertility preservation in female classic galactosemia patients
Britt van Erven, Cynthia S Gubbels, Ron J van Golde, Gerard A Dunselman, Josien G Derhaag, Guido de Wert, Joep P Geraedts, Annet M Bosch, Eileen P Treacy, Corrine K Welt, Gerard T Berry, M Estela Rubio-Gozalbo
Health-related quality of life and its determinants in children with a congenital diaphragmatic hernia
Fabrice Michel, Karine Baumstarck, Agathe Gosselin, Pierre Le Coz, Thierry Merrot, Sophie Hassid, Kathia Chaumoître, Julie Berbis, Claude Martin, Pascal Auquier
Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome
Bruno Donadille, Pascal D’Anella, Martine Auclair, Nancy Uhrhammer, Marc Sorel, Romulus Grigorescu, Sophie Ouzounian, Gilles Cambonie, Pierre Boulot, Pascal Laforêt, Bruno Carbonne, Sophie Christin-Maitre, Yves-Jean Bignon, Corinne Vigouroux
The impact of Hunter syndrome (mucopolysaccharidosis type II) on health-related quality of life
Mireia Raluy-Callado, Wen-Hung Chen, David A H Whiteman, Juanzhi Fang, Ingela Wiklund
Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease
Hyeon Jin Kim, Young Bin Hong, Jin-Mo Park, Yu-Ri Choi, Ye Jin Kim, Bo Ram Yoon, Heasoo Koo, Jeong Hyun Yoo, Sang Beom Kim, Minhwa Park, Ki Wha Chung, Byung-Ok Choi
A core microbiome associated with the peritoneal tumors of pseudomyxoma peritonei
Jeremy J Gilbreath, Cristina Semino-Mora, Christopher J Friedline, Hui Liu, Kip L Bodi, Thomas J McAvoy, Jennifer Francis, Carol Nieroda, Armando Sardi, Andre Dubois, David W Lazinski, Andrew Camilli, Traci L Testerman, D Scott Merrell
A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient
Taimoor I Sheikh, Kirti Mittal, Mary J Willis, John B Vincent
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations
Claudia Voigt, André Mégarbané, Kornelia Neveling, Johanna Christina Czeschik, Beate Albrecht, Bert Callewaert, Florian von Deimling, Andreas Hehr, Marie Falkenberg Smeland, Rainer König, Alma Kuechler, Carlo Marcelis, Maria Puiu, Willie Reardon, Hilde Monica Frostad Riise Stensland, Bernd Schweiger, Marloes Steehouwer, Christopher Teller, Marcel Martin, Sven Rahmann, Ute Hehr, Han G Brunner, Hermann-Josef Lüdecke, Dagmar Wieczorek
Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones
Marco Cammisa, Antonella Correra, Giuseppina Andreotti, Maria Vittoria Cubellis
Sustainable rare diseases business and drug access: no time for misconceptions
Pierrick Rollet, Adrien Lemoine, Marc Dunoyer
Galactosialidosis: review and analysis of CTSA gene mutations
Anna Caciotti, Serena Catarzi, Rodolfo Tonin, Licia Lugli, Carmen Rodriguez Perez, Helen Michelakakis, Irene Mavridou, Maria Alice Donati, Renzo Guerrini, Alessandra d’Azzo, Amelia Morrone
Fibrosis: a key feature of Fabry disease with potential therapeutic implications
Frank Weidemann, Maria D Sanchez-Niño, Juan Politei, João-Paulo Oliveira, Christoph Wanner, David G Warnock, Alberto Ortiz
Ursodeoxycholic acid counteracts celecoxib in reduction of duodenal polyps in patients with familial adenomatous polyposis: a multicentre, randomized controlled trial
Bjorn WH van Heumen, Hennie MJ Roelofs, M Elisa Vink-Börger, Evelien Dekker, Elisabeth MH Mathus-Vliegen, Jan Dees, Jan J Koornstra, Alexandra MJ Langers, Iris D Nagtegaal, Ellen Kampman, Wilbert HM Peters, Fokko M Nagengast,
A mutation in the c-Fos gene associated with congenital generalized lipodystrophy
Birgit Knebel, Jorg Kotzka, Stefan Lehr, Sonja Hartwig, Haluk Avci, Sylvia Jacob, Ulrike Nitzgen, Martina Schiller, Winfried März, Michael M Hoffmann, Eva Seemanova, Jutta Haas, Dirk Muller-Wieland
Pulmonary arterial hypertension
David Montani, Sven Günther, Peter Dorfmüller, Frédéric Perros, Barbara Girerd, Gilles Garcia, Xavier Jaïs, Laurent Savale, Elise Artaud-Macari, Laura C Price, Marc Humbert, Gérald Simonneau, Olivier Sitbon
Highly aggressive pathology of non-functional parathyroid carcinoma
Doina Piciu, Alexandru Irimie, George Kontogeorgos, Andra Piciu, Rares Buiga
Erratum to: COG5-CDG: expanding the clinical spectrum
Daisy Rymen, Liesbeth Keldermans, Valérie Race, Luc Régal, Nicolas Deconinck, Carlo Dionisi-Vici, Cheuk-wing Fung, Luisa Sturiale, Claire Rosnoblet, François Foulquier, Gert Matthijs, Jaak Jaeken
Hypersensitivity pneumonitis: lessons for diagnosis and treatment of a rare entity in children
Matthias Griese, Melanie Haug, Dominik Hartl, Veronika Teusch, Judith Glöckner-Pagel, Frank Brasch
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing
Heather B Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, Linda M Luxon, Mireille Claustres, Anne-Francoise Roux, Andrew R Webster, Maria Bitner-Glindzicz
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein
Lorenzo Nanetti, Simona Cavalieri, Viviana Pensato, Alessandra Erbetta, Davide Pareyson, Marta Panzeri, Giovanna Zorzi, Carlo Antozzi, Isabella Moroni, Cinzia Gellera, Alfredo Brusco, Caterina Mariotti
Systematic review of available evidence on 11 high-priced inpatient orphan drugs
Tim A Kanters, Caroline de Sonneville-Koedoot, W Ken Redekop, Leona Hakkaart
Importance of therapeutic patient education in ichthyosis: results of a prospective single reference center study
Helene Dufresne, Smail Hadj-Rabia, Charles Taïeb, Christine Bodemer
Comprehensive characterization of malignant phyllodes tumor by whole genomic and proteomic analysis: biological implications for targeted therapy opportunities
Denis L Fontes Jardim, Anthony Conley, Vivek Subbiah
A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder
Piya Lahiry, Lemuel Racacho, Jian Wang, John F Robinson, Gregory B Gloor, C Anthony Rupar, Victoria M Siu, Dennis E Bulman, Robert A Hegele
Chemotherapy for the treatment of malignant peripheral nerve sheath tumors in neurofibromatosis 1: a 10-year institutional review
Ouidad Zehou, Elizabeth Fabre, Laurent Zelek, Emilie Sbidian, Nicolas Ortonne, Eugeniu Banu, Pierre Wolkenstein, Laurence Valeyrie-Allanore
Aetiology of biliary atresia: what is actually known?
Claus Petersen, Mark Davenport
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases
Mirella Filocamo, Chiara Baldo, Stefano Goldwurm, Alessandra Renieri, Corrado Angelini, Maurizio Moggio, Marina Mora, Giuseppe Merla, Luisa Politano, Barbara Garavaglia, Lorena Casareto, Francesca Dagna Bricarelli
Glanders: an overview of infection in humans
Kristopher E Van Zandt, Marek T Greer, H Carl Gelhaus
Associated factors and comorbidities in patients with pyoderma gangrenosum in Germany: a retrospective multicentric analysis in 259 patients
Philipp Al Ghazal, Katharina Herberger, Jörg Schaller, Anke Strölin, Norman-Philipp Hoff, Tobias Goerge, Hannelore Roth, Eberhard Rabe, Sigrid Karrer, Regina Renner, Jan Maschke, Thomas Horn, Julia Hepp, Sabine Eming, Uwe Wollina, Markus Zutt, Isabell Sick, Benno Splieth, Dorothea Dill, Joachim Klode, Joachim Dissemond
Erdheim-Chester Disease: a comprehensive review of the literature
Roei D Mazor, Mirra Manevich-Mazor, Yehuda Shoenfeld
Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder
Kevin Berendse, Merel S Ebberink, Lodewijk IJlst, Bwee Tien Poll-The, RonaldJ A Wanders, Hans R Waterham
The legal imperative for treating rare disorders
Hanna I Hyry, Jonathan CP Roos, Jeremy Manuel, Timothy M Cox
Phenylketonuria: reduced tyrosine brain influx relates to reduced cerebral protein synthesis
Martijn J de Groot, Marieke Hoeksma, Dirk-Jan Reijngoud, Harold W de Valk, Anne MJ Paans, Pieter JJ Sauer, Francjan J van Spronsen
LINS, a modulator of the WNT signaling pathway, is involved in human cognition
Nadia A Akawi, Fatma Al-Jasmi, Aisha M Al-Shamsi, Bassam R Ali, Lihadh Al-Gazali
Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa
Marilina Tampoia, Domenico Bonamonte, Angela Filoni, Lucrezia Garofalo, Maria Grazia Morgese, Luigia Brunetti, Chiara Di Giorgio, Giuseppina Annicchiarico
ACTH-independent macronodular adrenocortical hyperplasia reveals prevalent aberrant in vivo and in vitroresponses to hormonal stimuli and coupling of arginine-vasopressin type 1a receptor to 11β-hydroxylase
Johannes Hofland, Leo J Hofland, Peter M van Koetsveld, Jacobie Steenbergen, Wouter W de Herder, Casper H van Eijck, Ronald R de Krijger, Francien H van Nederveen, Maarten O van Aken, Johannes W de Groot, Thera P Links, Frank H de Jong, Richard A Feelders
Regional consensus opinion for the management of Beta thalassemia major in the Arabian Gulf area
Mohamad H Qari, Yasser Wali, Muneer H Albagshi, Mohammad Alshahrani, Azzah Alzahrani, Ibrahim A Alhijji, Abdulkareem Almomen, Abdullah Aljefri, Hussain H Al Saeed, Shaker Abdullah, Ahmad Al Rustumani, Khoutir Mahour, Shaker A Mousa
TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia
Maria Sandbacka, Hannele Laivuori, Érika Freitas, Mervi Halttunen, Varpu Jokimaa, Laure Morin-Papunen, Carla Rosenberg, Kristiina Aittomäki
Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome
Sandra Jester, Julia Larsson, Erik A Eklund, Domniki Papadopoulou, Jan-Eric Månsson, Albert N Békássy, Dominik Turkiewicz, Jacek Toporski, Ingrid Øra
Methodological challenges in monitoring new treatments for rare diseases: lessons from the cryopyrin-associated periodic syndrome registry
Hugh Tilson, Paola Primatesta, Dennis Kim, Barbara Rauer, Philip N Hawkins, Hal M Hoffman, Jasmin Kuemmerle-Deschner, Tom van der Poll, Ulrich A Walker
Brachydactyly E: isolated or as a feature of a syndrome
Arrate Pereda, Intza Garin, Maria Garcia-Barcina, Blanca Gener, Elena Beristain, Ane Miren Ibañez, Guiomar Perez de Nanclares
Roll out of intraveneous artesunate under named patient programmes in the Netherlands, Belgium and France
Annemarie Rosan Kreeftmeijer-Vegter, Cornelis KW van Veldhuizen, Peter J de Vries
FGF10 Signaling differences between type I pleuropulmonary blastoma and congenital cystic adenomatoid malformation
Guillaume Lezmi, Virginie Verkarre, Naziha Khen-Dunlop, Shamila Vibhushan, Alice Hadchouel, Caroline Rambaud, Marie-Christine Copin, Jean-Luc Rittie, Alexandra Benachi, Jean-Christophe Fournet, Christophe Delacourt
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan
Shuan-Pei Lin, Hsiang-Yu Lin, Tuen-Jen Wang, Chia-Ying Chang, Chia-Hui Lin, Sung-Fa Huang, Chia-Chen Tsai, Hsuan-Liang Liu, Joan Keutzer, Chih-Kuang Chuang
The parallel lives of alpha1-antitrypsin deficiency and pulmonary alveolar proteinosis
Bruce C Trapnell, Maurizio Luisetti
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
Sofie Symoens, Fransiska Malfait, Sanne D’hondt, Bert Callewaert, Annelies Dheedene, Wouter Steyaert, Hans Peter Bächinger, Anne De Paepe, Hulya Kayserili, Paul J Coucke
Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks
Michaela Trilck, Rayk Hübner, Philip Seibler, Christine Klein, Arndt Rolfs, Moritz J Frech
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease
Yildiz Yildiz, Per Hoffmann, Stefan vom Dahl, Bernadette Breiden, Roger Sandhoff, Claus Niederau, Mia Horwitz, Stefan Karlsson, Mirella Filocamo, Deborah Elstein, Michael Beck, Konrad Sandhoff, Eugen Mengel, Maria C Gonzalez, Markus M Nöthen, Ellen Sidransky, Ari Zimran, Manuel Mattheisen
Development and validation of COMPASS: clinical evidence of orphan medicinal products – an assessment tool
Eline Picavet, David Cassiman, Bert Aertgeerts, Steven Simoens
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship
Simone Sampaolo, Teresa Esposito, Olimpia Farina, Daniela Formicola, Daria Diodato, Fernando Gianfrancesco, Federica Cipullo, Gaetana Cremone, Mario Cirillo, Luca Del Viscovo, Antonio Toscano, Corrado Angelini, Giuseppe Di Iorio
Augmentation therapy for alpha-1 antitrypsin deficiency: towards a personalised approach
Robert A Stockley, Marc Miravitlles, Claus Vogelmeier
Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure
Eveline J Langereis, Andrea Borgo, Ellen Crushell, Paul R Harmatz, Peter M van Hasselt, Simon A Jones, Paula M Kelly, Christina Lampe, Johanna H van der Lee, Thierry Odent, Ralph Sakkers, Maurizio Scarpa, Matthias U Schafroth, Peter A Struijs, Vassili Valayannopoulos, Klane K White, Frits A Wijburg
Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP)
Kathrin N Karle, Rebecca Schüle, Stephan Klebe, Susanne Otto, Christian Frischholz, Inga Liepelt-Scarfone, Ludger Schöls
New insights into pediatric idiopathic pulmonary hemosiderosis: the French RespiRare® cohort
Jessica Taytard, Nadia Nathan, Jacques de Blic, Mickael Fayon, Ralph Epaud, Antoine Deschildre, Françoise Troussier, Marc Lubrano, Raphaël Chiron, Philippe Reix, Pierrick Cros, Malika Mahloul, Delphine Michon, Annick Clement, Harriet Corvol
Clinical evidence for orphan medicinal products-a cause for concern?
Eline Picavet, David Cassiman, Carla E Hollak, Johan A Maertens, Steven Simoens
Fahr’s syndrome: literature review of current evidence
Shafaq Saleem, Hafiz Muhammad Aslam, Maheen Anwar, Shahzad Anwar, Maria Saleem, Anum Saleem, Muhammad Asim Khan Rehmani
Niemann-Pick disease type C symptomatology: an expert-based clinical description
Eugen Mengel, Hans-Hermann Klünemann, Charles M Lourenço, Christian J Hendriksz, Frédéric Sedel, Mark Walterfang, Stefan A Kolb
Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism
Laura Dotta, Silvia Parolini, Alberto Prandini, Giovanna Tabellini, Maddalena Antolini, Stephen F Kingsmore, Raffaele Badolato
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias
Mathilde Nizon, Chris Ottolenghi, Vassili Valayannopoulos, Jean-Baptiste Arnoux, Valérie Barbier, Florence Habarou, Isabelle Desguerre, Nathalie Boddaert, Jean-Paul Bonnefont, Cécile Acquaviva, Jean-François Benoist, Daniel Rabier, Guy Touati, Pascale de Lonlay
Organizing national responses for rare blood disorders: the Italian experience with sickle cell disease in childhood
Raffaella Colombatti, Silverio Perrotta, Piera Samperi, Maddalena Casale, Nicoletta Masera, Giovanni Palazzi, Laura Sainati, Giovanna Russo
The clinical relevance of outcomes used in late-onset Pompe disease: can we do better?
Robin Lachmann, Benedikt Schoser
The expanding spectrum of rare monogenic autoinflammatory diseases
Isabelle Touitou, Caroline Galeotti, Linda Rossi-Semerano, Véronique Hentgen, Maryam Piram, Isabelle Koné-Paut
Unfolded protein response in Gaucher disease: from human to Drosophila
Gali Maor, Sigal Rencus-Lazar, Mirella Filocamo, Hermann Steller, Daniel Segal, Mia Horowitz
The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases
Sunil Rodger, Hanns Lochmüller, Adrian Tassoni, Kathrin Gramsch, Kirsten König, Kate Bushby, Volker Straub, Rudolf Korinthenberg, Janbernd Kirschner
GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients
Maria E de la Morena-Barrio, Trinidad Hernández-Caselles, Javier Corral, Roberto García-López, Irene Martínez-Martínez, Belen Pérez-Dueñas, Carmen Altisent, Teresa Sevivas, Soren R Kristensen, Encarna Guillén-Navarro, Antonia Miñano, Vicente Vicente, Jaak Jaeken, Maria L Lozano
Erratum to: Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease
Hyeon Jin Kim, Young Bin Hong, Jin-Mo Park, Yu-Ri Choi, Ye Jin Kim, Bo Ram Yoon, Heasoo Koo, Jeong Hyun Yoo, Sang Beom Kim, Minhwa Park, Ki Wha Chung, Byung-Ok Choi
Genotype-phenotype correlations in recessive RYR1-related myopathies
Kimberly Amburgey, Angela Bailey, Jean H Hwang, Mark A Tarnopolsky, Carsten G Bonnemann, Livija Medne, Katherine D Mathews, James Collins, Jasper R Daube, Gregory P Wellman, Brian Callaghan, Nigel F Clarke, James J Dowling
Funding innovation for treatment for rare diseases: adopting a cost-based yardstick approach
Garret Kent Fellows, Aidan Hollis
Phenotypical variation within 22 families with Pompe disease
Stephan C A Wens, Carin M van Gelder, Michelle E Kruijshaar, Juna M de Vries, Nadine A M E van der Beek, Arnold J J Reuser, Pieter A van Doorn, Ans T van der Ploeg, Esther Brusse
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study
Tetsuo Ashizawa, Karla P Figueroa, Susan L Perlman, Christopher M Gomez, George R Wilmot, Jeremy D Schmahmann, Sarah H Ying, Theresa A Zesiewicz, Henry L Paulson, Vikram G Shakkottai, Khalaf O Bushara, Sheng-Han Kuo, Michael D Geschwind, Guangbin Xia, Pietro Mazzoni, Jeffrey P Krischer, David Cuthbertson, Amy Roberts Holbert, John H Ferguson, Stefan M Pulst, SH Subramony
Drug development for exceptionally rare metabolic diseases: challenging but not impossible
Michelle Putzeist, Aukje K Mantel-Teeuwisse, Christine C Gispen-de Wied, Arno W Hoes, Hubert GM Leufkens, Remco LA de Vrueh
Acquired non-compaction in integrin-myopathy
Josef Finsterer, Sinda Zarrouk-Mahjoub
Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation
Heba Gamal Farag, Sebastian Froehler, Konrad Oexle, Ethiraj Ravindran, Detlev Schindler, Timo Staab, Angela Huebner, Nadine Kraemer, Wei Chen, Angela M Kaindl
A prospective observational study of associated anomalies in Hirschsprung’s disease
Alessio Pini Prato, Valentina Rossi, Manuela Mosconi, Catarina Holm, Francesca Lantieri, Paola Griseri, Isabella Ceccherini, Domenico Mavilio, Vincenzo Jasonni, Giulia Tuo, Maria Derchi, Maurizio Marasini, Gianmichele Magnano, Claudio Granata, Gianmarco Ghiggeri, Enrico Priolo, Lorenza Sposetti, Adelina Porcu, Piero Buffa, Girolamo Mattioli
Duodenal mucosal risk markers in patients with familial adenomatous polyposis: effects of celecoxib/ursodeoxycholic acid co-treatment and comparison with patient controls
Bjorn WH van Heumen, Hennie MJ Roelofs, René HM te Morsche, Fokko M Nagengast, Wilbert HM Peters
Characteristics and management of congenital esophageal stenosis: findings from a multicenter study
Laurent Michaud, Frédéric Coutenier, Guillaume Podevin, Arnaud Bonnard, François Becmeur, Naziha Khen-Dunlop, Frédéric Auber, Aude Maurel, Thomas Gelas, Martine Dassonville, Corinne Borderon, Alain Dabadie, Dominique Weil, Christian Piolat, Anne Breton, Djamal Djeddi, Alain Morali, Florence Bastiani, Thierry Lamireau, Frédéric Gottrand
Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy
Rima Nabbout, Nicole Chemaly, Mathilde Chipaux, Giulia Barcia, Charles Bouis, Celia Dubouch, Dorothee Leunen, Isabelle Jambaqué, Olivier Dulac, Georges Dellatolas, Catherine Chiron
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase
Sacha Ferdinandusse, Hans R Waterham, Simon JR Heales, Garry K Brown, Iain P Hargreaves, Jan-Willem Taanman, Roxana Gunny, Lara Abulhoul, Ronald JA Wanders, Peter T Clayton, James V Leonard, Shamima Rahman
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia
Lisa G Riley, Minal J Menezes, Joëlle Rudinger-Thirion, Rachael Duff, Pascale de Lonlay, Agnes Rotig, Michel C Tchan, Mark Davis, Sandra T Cooper, John Christodoulou
Pathways systematically associated to Hirschsprung’s disease
Raquel M Fernández, Marta Bleda, Berta Luzón-Toro, Luz García-Alonso, Stacey Arnold, Yunia Sribudiani, Claude Besmond, Francesca Lantieri, Betty Doan, Isabella Ceccherini, Stanislas Lyonnet, Robert MW Hofstra, Aravinda Chakravarti, Guillermo Antiñolo, Joaquín Dopazo, Salud Borrego
Requirements for a minimum standard of care for phenylketonuria: the patients’ perspective
Tobias S Hagedorn, Paul van Berkel, Gregor Hammerschmidt, Markéta Lhotáková, Rosalia Pasqual Saludes
The effects of Eculizumab on the pathology of malignant atrophic papulosis
Cynthia M Magro, Xuan Wang, Francine Garrett-Bakelman, Jeffrey Laurence, Lee S Shapiro, Maria T DeSancho
Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea
Roberto Berni Canani, Gianluca Terrin, Ausilia Elce, Vincenza Pezzella, Peter Heinz-Erian, Annalisa Pedrolli, Chiara Centenari, Felice Amato, Rossella Tomaiuolo, Antonio Calignano, Riccardo Troncone, Giuseppe Castaldo
Natural history of Sanfilippo syndrome in Spain
Verónica Delgadillo, Maria del Mar O’Callaghan, Laura Gort, Maria Josep Coll, Mercedes Pineda
Weekly oral alendronate in mevalonate kinase deficiency
Luca Cantarini, Antonio Vitale, Flora Magnotti, Orso Maria Lucherini, Francesco Caso, Bruno Frediani, Mauro Galeazzi, Donato Rigante
A xenograft animal model of human arteriovenous malformations
Fang Hou, Yuemeng Dai, James Y Suen, Chunyang Fan, Ali G Saad, Gresham T Richter
Reconciling uncertainty of costs and outcomes with the need for access to orphan medicinal products: a comparative study of managed entry agreements across seven European countries
Thomas Morel, Francis Arickx, Gustaf Befrits, Paolo Siviero, Caroline van der Meijden, Entela Xoxi, Steven Simoens
Specific cancer rates may differ in patients with hereditary haemorrhagic telangiectasia compared to controls
Anna E Hosman, Hannah L Devlin, B Maneesha Silva, Claire L Shovlin
Induced pluripotent stem cells from patients with human fibrodysplasia ossificans progressiva show increased mineralization and cartilage formation
Yoshihisa Matsumoto, Yohei Hayashi, Christopher R Schlieve, Makoto Ikeya, Hannah Kim, Trieu D Nguyen, Salma Sami, Shiro Baba, Emilie Barruet, Akira Nasu, Isao Asaka, Takanobu Otsuka, Shinya Yamanaka, Bruce R Conklin, Junya Toguchida, Edward C Hsiao
Quantitative proteomic analysis of cultured skin fibroblast cells derived from patients with triglyceride deposit cardiomyovasculopathy
Yasuhiro Hara, Naoko Kawasaki, Ken-ichi Hirano, Yuuki Hashimoto, Jun Adachi, Shio Watanabe, Takeshi Tomonaga
Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva
Francesca Giacopelli, Serena Cappato, Laura Tonachini, Marzia Mura, Simona Di Lascio, Diego Fornasari, Roberto Ravazzolo, Renata Bocciardi
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity
Johanna Christina Czeschik, Peter Bauer, Karin Buiting, Claudia Dufke, Encarna Guillén-Navarro, Diana S Johnson, Udo Koehler, Vanesa López-González, Hermann-Josef Lüdecke, Alison Male, Deborah Morrogh, Angelika Rieß, Andreas Tzschach, Dagmar Wieczorek, Alma Kuechler
The molecular mechanisms on glomangiopericytoma invasion
Qiang Sun, Chunye Zhang, Wantao Chen, Yue He
Perhexiline maleate in the treatment of fibrodysplasia ossificans progressiva: an open-labeled clinical trial
Hiroshi Kitoh, Masataka Achiwa, Hiroshi Kaneko, Kenichi Mishima, Masaki Matsushita, Izumi Kadono, John D Horowitz, Benedetta C Sallustio, Kinji Ohno, Naoki Ishiguro
Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis
Johannes Pfeil, Stefan Listl, Georg F Hoffmann, Stefan Kölker, Martin Lindner, Peter Burgard
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study
Hideki Mutai, Naohiro Suzuki, Atsushi Shimizu, Chiharu Torii, Kazunori Namba, Noriko Morimoto, Jun Kudoh, Kimitaka Kaga, Kenjiro Kosaki, Tatsuo Matsunaga
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression
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