Ausgabe 1/2012
Inhalt (103 Artikel)
ESR1, HK3 and BRSK1 gene variants are associated with both age at natural menopause and premature ovarian failure
Yingying Qin, Mei Sun, Li You, Deying Wei, Jielin Sun, Xiaoyan Liang, Bo Zhang, Hong Jiang, Jianfeng Xu, Zi-Jiang Chen
Clinical and neurocognitive outcome in symptomatic isovaleric acidemia
Sarah C Grünert, Udo Wendel, Martin Lindner, Michael Leichsenring, K Otfried Schwab, Jerry Vockley, Willy Lehnert, Regina Ensenauer
Gaucher disease and the synucleinopathies: refining the relationship
Tessa N Campbell, Francis YM Choy
Clinical expression of Menkes disease in females with normal karyotype
Lisbeth Birk Møller, Malgorzata Lenartowicz, Marie-Therese Zabot, Arnaud Josiane, Lydie Burglen, Chris Bennett, Daniel Riconda, Richard Fisher, Sandra Janssens, Shehla Mohammed, Margreet Ausems, Zeynep Tümer, Nina Horn, Thomas G Jensen
Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms
Ettore Salsano, Silvia Tabano, Silvia M Sirchia, Patrizia Colapietro, Barbara Castellotti, Cinzia Gellera, Marco Rimoldi, Viviana Pensato, Caterina Mariotti, Davide Pareyson, Monica Miozzo, Graziella Uziel
Gastric lactobezoar - a rare disorder?
Peter Heinz-Erian, Ingmar Gassner, Andreas Klein-Franke, Veronika Jud, Rudolf Trawoeger, Christian Niederwanger, Thomas Mueller, Bernhard Meister, Sabine Scholl-Buergi
Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France
Virginie Scotet, Ingrid Duguépéroux, Philippe Saliou, Gilles Rault, Michel Roussey, Marie-Pierre Audrézet, Claude Férec
Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI
Andrea Poretti, Giuseppina Vitiello, Raoul CM Hennekam, Filippo Arrigoni, Enrico Bertini, Renato Borgatti, Francesco Brancati, Stefano D'Arrigo, Francesca Faravelli, Lucio Giordano, Thierry AGM Huisman, Miriam Iannicelli, Gerhard Kluger, Marten Kyllerman, Magnus Landgren, Melissa M Lees, Lorenzo Pinelli, Romina Romaniello, Ianina Scheer, Christoph E Schwarz, Ronen Spiegel, Daniel Tibussek, Enza Maria Valente, Eugen Boltshauser
Nijmegen breakage syndrome (NBS)
Krystyna H Chrzanowska, Hanna Gregorek, Bożenna Dembowska-Bagińska, Maria A Kalina, Martin Digweed
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
Elisa A Colombo, J Fernando Bazan, Gloria Negri, Cristina Gervasini, Nursel H Elcioglu, Deniz Yucelten, Ilknur Altunay, Umram Cetincelik, Anna Teti, Andrea Del Fattore, Matteo Luciani, Spencer K Sullivan, Albert C Yan, Ludovica Volpi, Lidia Larizza
Pulmonary langerhans cell histiocytosis
Harpreet S Suri, Eunhee S Yi, Gregorz S Nowakowski, Robert Vassallo
Endocrine manifestations related to inherited metabolic diseases in adults
Marie-Christine Vantyghem, Dries Dobbelaere, Karine Mention, Jean-Louis Wemeau, Jean-Marie Saudubray, Claire Douillard
Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula
Pilar Giraldo, Pilar Alfonso, Pilar Irún, Laura Gort, Amparo Chabás, Lluïsa Vilageliu, Daniel Grinberg, Clara M Sá Miranda, Miguel Pocovi
Public support for neonatal screening for Pompe disease, a broad-phenotype condition
Stephanie Shifra Weinreich, Tessel Rigter, Carla Geertruida van El, Wybo Jan Dondorp, Pieter Johannes Kostense, Ans T van der Ploeg, Arnold JJ Reuser, Martina Cornelia Cornel, Marloes Louise Catharina Hagemans
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leila Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean-Pierre Siffroi, Thierry Billette de Villemeur, Diana Rodriguez
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
Isabelle Audo, Kinga M Bujakowska, Thierry Léveillard, Saddek Mohand-Saïd, Marie-Elise Lancelot, Aurore Germain, Aline Antonio, Christelle Michiels, Jean-Paul Saraiva, Mélanie Letexier, José-Alain Sahel, Shomi S Bhattacharya, Christina Zeitz
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
Minke H de Ru, Quirine GA Teunissen, Johanna H van der Lee, Michael Beck, Olaf A Bodamer, Lorne A Clarke, Carla E Hollak, Shuan-Pei Lin, Maria-Verónica Muñoz Rojas, Gregory M Pastores, Julian A Raiman, Maurizio Scarpa, Eileen P Treacy, Anna Tylki-Szymanska, J Edmond Wraith, Jiri Zeman, Frits A Wijburg
Cystinuria: an inborn cause of urolithiasis
Thomas Eggermann, Andreas Venghaus, Klaus Zerres
Novel genetic linkage of rat Sp6 mutation to Amelogenesis imperfecta
Taro Muto, Keiko Miyoshi, Taigo Horiguchi, Hiroko Hagita, Takafumi Noma
Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease
Alice K Tanner, Ephrem L H Chin, Patricia K Duffner, Madhuri Hegde
Improvement of genetic stability in lymphocytes from Fanconi anemia patients through the combined effect of α-lipoic acid and N-acetylcysteine
Filipa Ponte, Rosa Sousa, Ana Paula Fernandes, Cristina Gonçalves, José Barbot, Félix Carvalho, Beatriz Porto
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C
Bénédicte Héron, Vassili Valayannopoulos, Julien Baruteau, Brigitte Chabrol, Hélène Ogier, Philippe Latour, Dries Dobbelaere, Didier Eyer, François Labarthe, Hélène Maurey, Jean-Marie Cuisset, Thierry Billette de Villemeur, Frédéric Sedel, Marie T Vanier
Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase
Amanda J Heslegrave, Ritika R Kapoor, Simon Eaton, Bernadette Chadefaux, Teoman Akcay, Enver Simsek, Sarah E Flanagan, Sian Ellard, Khalid Hussain
Review of Dercum’s disease and proposal of diagnostic criteria, diagnostic methods, classification and management
Emma Hansson, Henry Svensson, Håkan Brorson
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations
Alberto Casarin, Gianpietro Giorgi, Vanessa Pertegato, Roberta Siviero, Cristina Cerqua, Mara Doimo, Giuseppe Basso, Sabrina Sacconi, Matteo Cassina, Rosario Rizzuto, Sonja Brosel, Mercy M Davidson, Salvatore DiMauro, Eric A Schon, Maurizio Clementi, Eva Trevisson, Leonardo Salviati
Hypoglycaemia related to inherited metabolic diseases in adults
Claire Douillard, Karine Mention, Dries Dobbelaere, Jean-Louis Wemeau, Jean-Marie Saudubray, Marie-Christine Vantyghem
A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study
Paola Pierucci, Gennaro M Lenato, Patrizia Suppressa, Patrizia Lastella, Vincenzo Triggiani, Raffaella Valerio, Mario Comelli, Daniela Salvante, Alessandro Stella, Nicoletta Resta, Giancarlo Logroscino, Francesco Resta, Carlo Sabbà
The empowerment of translational research: lessons from laminopathies
Sara Benedetti, Pia Bernasconi, Enrico Bertini, Elena Biagini, Giuseppe Boriani, Cristina Capanni, Nicola Carboni, Giovanna Cenacchi, Marta Columbaro, Monica D'Adamo, Adele D’Amico, Maria Rosaria D’Apice, Marianna Fontana, Alessandra Gambineri, Giovanna Lattanzi, Rocco Liguori, Nadir M Maraldi, Laura Mazzanti, Eugenio Mercuri, Tiziana Mongini, Lucia O Morandi, Iria Neri, Giovanni Nigro, Giuseppe Novelli, Michela Ortolani, Renato Pasquali, Antonella Pini, Stefania Petrini, Luisa Politano, Stefano Previtali, Lisa Pucci, Claudio Rapezzi, Giulia Ricci, Carmelo Rodolico, Paolo Sbraccia, Emanuela Scarano, Gabriele Siciliano, Stefano Squarzoni, Antonio Toscano, Liliana Vercelli, Matteo Ziacchi
A generalizable pre-clinical research approach for orphan disease therapy
Chandree L Beaulieu, Mark E Samuels, Sean Ekins, Christopher R McMaster, Aled M Edwards, Adrian R Krainer, Geoffrey G Hicks, Brendan J Frey, Kym M Boycott, Alex E MacKenzie
A national internet-linked based database for pediatric interstitial lung diseases: the French network
Nadia Nathan, Rola Abou Taam, Ralph Epaud, Christophe Delacourt, Antoine Deschildre, Philippe Reix, Raphaël Chiron, Ulrika de Pontbriand, Jacques Brouard, Michaël Fayon, Jean-Christophe Dubus, Lisa Giovannini-Chami, François Bremont, Katia Bessaci, Cyril Schweitzer, Marie-Laure Dalphin, Christophe Marguet, Véronique Houdouin, Françoise Troussier, Anne Sardet, Eglantine Hullo, Isabelle Gibertini, Malika Mahloul, Delphine Michon, Adrien Priouzeau, Laurie Galeron, Jean-François Vibert, Guillaume Thouvenin, Harriet Corvol, Jacques deBlic, Annick Clement
Cushing’s disease
Frederic Castinetti, Isabelle Morange, Bernard Conte-Devolx, Thierry Brue
Complement factor I deficiency: a not so rare immune defect. Characterization of new mutations and the first large gene deletion
María Alba-Domínguez, Alberto López-Lera, Sofía Garrido, Pilar Nozal, Ignacio González-Granado, Josefa Melero, Pere Soler-Palacín, Carmen Cámara, Margarita López-Trascasa
The treatable intellectual disability APP www.treatable-id.org: A digital tool to enhance diagnosis & care for rare diseases
Clara D M van Karnebeek, Roderick F A Houben, Mirafe Lafek, Wynona Giannasi, Sylvia Stockler
The rare disease challenge and how to promote a productive rare disease community: Case study of Birt-Hogg-Dubé Symposia
Vicki L Colledge, John Solly
Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database
Aurélie Nicolas, Céline Lucchetti-Miganeh, Rabah Ben Yaou, Jean-Claude Kaplan, Jamel Chelly, France Leturcq, Frédérique Barloy-Hubler, Elisabeth Le Rumeur
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns
Stephan M Tanner, Amy C Sturm, Elizabeth C Baack, Sandya Liyanarachchi, Albert de la Chapelle
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations
Andreas Herzog, Ralf Hartung, Arnold J J Reuser, Pia Hermanns, Heiko Runz, Nesrin Karabul, Seyfullah Gökce, Joachim Pohlenz, Christoph Kampmann, Christina Lampe, Michael Beck, Eugen Mengel
Suggested guidelines for the diagnosis and management of urea cycle disorders
Johannes Häberle, Nathalie Boddaert, Alberto Burlina, Anupam Chakrapani, Marjorie Dixon, Martina Huemer, Daniela Karall, Diego Martinelli, Pablo Sanjurjo Crespo, René Santer, Aude Servais, Vassili Valayannopoulos, Martin Lindner, Vicente Rubio, Carlo Dionisi-Vici
Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases
Caron Molster, Leanne Youngs, Emma Hammond, Hugh Dawkins
Clinical characteristics predicting internal neurofibromas in 357 children with neurofibromatosis-1: results from a cross-selectional study
Emilie Sbidian, Smaïl Hadj-Rabia, Vincent M Riccardi, Laurence L Valeyrie-Allanore, Sébastien Barbarot, Olivier Chosidow, Salah Ferkal, Diana Rodriguez, Pierre Wolkenstein, Sylvie Bastuji-Garin
Guiametabolica.org: empowerment through internet tools in inherited metabolic diseases
Manuel Armayones, M Antònia Vilaseca, Júlia Cutillas, Jordi Fàbrega, Jorge Juan Fernández, Mei García, Natàlia Egea, Modesta Pousada, Beni Gómez-Zuñiga, Jaume Pérez-Payarols, Rafael Artuch, Francesc Palau, Mercedes Serrano
Genetic testing in diffuse parenchymal lung disease
Paolo Spagnolo, Fabrizio Luppi, Stefania Cerri, Luca Richeldi
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency
Andreas Ohlenbusch, Simon Edvardson, Johannes Skorpen, Alf Bjornstad, Ann Saada, Orly Elpeleg, Jutta Gärtner, Knut Brockmann
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
Jonàs Juan-Mateu, Maria José Rodríguez, Andrés Nascimento, Cecilia Jiménez-Mallebrera, Lidia González-Quereda, Eloy Rivas, Carmen Paradas, Marcos Madruga, Pedro Sánchez-Ayaso, Cristina Jou, Laura González-Mera, Francina Munell, Manuel Roig-Quilis, Maria Rabasa, Aurelio Hernández-Lain, Jorge Díaz-Manera, Eduard Gallardo, Jordi Pascual, Edgard Verdura, Jaume Colomer, Montserrat Baiget, Montse Olivé, Pia Gallano
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance
Bassam R Ali, Jennifer L Silhavy, Nadia A Akawi, Joseph G Gleeson, Lihadh Al-Gazali
A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012
Yazhou Cui, Heng Zhao, Zhenxing Liu, Chao Liu, Jing Luan, Xiaoyan Zhou, Jinxiang Han
3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals
Sarah C Grünert, Martin Stucki, Raphael J Morscher, Terttu Suormala, Celine Bürer, Patricie Burda, Ernst Christensen, Can Ficicioglu, Jürgen Herwig, Stefan Kölker, Dorothea Möslinger, Elisabetta Pasquini, René Santer, K Otfried Schwab, Bridget Wilcken, Brian Fowler, Wyatt W Yue, Matthias R Baumgartner
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East
Lilia Romdhane, Rym Kefi, Hela Azaiez, Nizar Ben Halim, Koussay Dellagi, Sonia Abdelhak
Monitoring access to nationally commissioned services in England
Suzanne Coles, Kate Haire, Tom Kenny, Edmund G Jessop
Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance
Johannes Häberle, Noora Shahbeck, Khalid Ibrahim, Bernhard Schmitt, Ianina Scheer, Ruth O’Gorman, Farrukh A Chaudhry, Tawfeg Ben-Omran
AL Amyloidosis
Estelle Desport, Frank Bridoux, Christophe Sirac, Sébastien Delbes, Sébastien Bender, Béatrice Fernandez, Nathalie Quellard, Corinne Lacombe, Jean-Michel Goujon, David Lavergne, Julie Abraham, Guy Touchard, Jean-Paul Fermand, Arnaud Jaccard
Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families
Jeong-In Baek, Se-Kyung Oh, Dong-Bin Kim, Soo-Young Choi, Un-Kyung Kim, Kyu-Yup Lee, Sang-Heun Lee
Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management
Pilar L Magoulas, Ayman W El-Hattab
Past, present and future of hemophilia: a narrative review
Massimo Franchini, Pier Mannuccio Mannucci
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
Marc Engelen, Stephan Kemp, Marianne de Visser, Björn M van Geel, Ronald JA Wanders, Patrick Aubourg, Bwee Tien Poll-The
Uveitis- a rare disease often associated with systemic diseases and infections- a systematic review of 2619 patients
Talin Barisani-Asenbauer, Saskia M Maca, Lamiss Mejdoubi, Wolfgang Emminger, Klaus Machold, Herbert Auer
Krüppel-like zinc finger proteins in end-stage COPD lungs with and without severe alpha1-antitrypsin deficiency
A-Rembert Koczulla, Danny Jonigk, Thomas Wolf, Christian Herr, Sarah Noeske, Walter Klepetko, Claus Vogelmeier, Nils von Neuhoff, Johanna Rische, Sabine Wrenger, Heiko Golpon, Robert Voswinckel, Maurizio Luisetti, Ilaria Ferrarotti, Tobias Welte, Sabina Janciauskiene
Toxic epidermal necrolysis, DRESS, AGEP: Do overlap cases exist?
Sophie Bouvresse, Laurence Valeyrie-Allanore, Nicolas Ortonne, Marie Pauline Konstantinou, Sylvia H Kardaun, Martine Bagot, Pierre Wolkenstein, Jean-Claude Roujeau
An epidemiological and clinical analysis of craniomaxillofacial fibrous dysplasia in a Chinese population
Jie Cheng, Yanling Wang, Hongbo Yu, Dongmiao Wang, Jinhai Ye, Hongbin Jiang, Yunong Wu, Guofang Shen
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives
Annet M Bosch, Kevin Stroek, Nico G Abeling, Hans R Waterham, Lodewijk IJlst, Ronald JA Wanders
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
Tobias Eisenberger, Rima Slim, Ahmad Mansour, Markus Nauck, Gudrun Nürnberg, Peter Nürnberg, Christian Decker, Claudia Dafinger, Inga Ebermann, Carsten Bergmann, Hanno Jörn Bolz
Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study
Nadine Zwink, Ekkehart Jenetzky, Eberhard Schmiedeke, Dominik Schmidt, Stefanie Märzheuser, Sabine Grasshoff-Derr, Stefan Holland-Cunz, Sandra Weih, Stuart Hosie, Peter Reifferscheid, Helen Ameis, Christina Kujath, Anke Rißmann, Florian Obermayr, Nicole Schwarzer, Enrika Bartels, Heiko Reutter, Hermann Brenner
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
Marie Morimoto, Zhongxin Yu, Peter Stenzel, J Marietta Clewing, Behzad Najafian, Christy Mayfield, Glenda Hendson, Justin G Weinkauf, Andrew K Gormley, David M Parham, Umakumaran Ponniah, Jean-Luc André, Yumi Asakura, Mitra Basiratnia, Radovan Bogdanović, Arend Bokenkamp, Dominique Bonneau, Anna Buck, Joel Charrow, Pierre Cochat, Isabel Cordeiro, Georges Deschenes, M Semin Fenkçi, Pierre Frange, Stefan Fründ, Helen Fryssira, Encarna Guillen-Navarro, Kory Keller, Salman Kirmani, Christine Kobelka, Petra Lamfers, Elena Levtchenko, David B Lewis, Laura Massella, D Ross McLeod, David V Milford, François Nobili, Jorge M Saraiva, C Nur Semerci, Lawrence Shoemaker, Nataša Stajić, Anja Stein, Doris Taha, Dorothea Wand, Jonathan Zonana, Thomas Lücke, Cornelius F Boerkoel
Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study
Juna M de Vries, Nadine AME van der Beek, Wim CJ Hop, Francois PJ Karstens, John H Wokke, Marianne de Visser, Baziel GM van Engelen, Jan BM Kuks, Anneke J van der Kooi, Nicolette C Notermans, Catharina G Faber, Jan JGM Verschuuren, Michelle E Kruijshaar, Arnold JJ Reuser, Pieter A van Doorn, Ans T van der Ploeg
Assessing the effectiveness of rapamycin on angiomyolipoma in tuberous sclerosis: a two years trial
Cristina Cabrera-López, Teresa Martí, Violeta Catalá, Ferran Torres, Silvia Mateu, Jose Ballarín, Roser Torra
Reference percentiles for FEV1 and BMI in European children and adults with cystic fibrosis
Pierre-Yves Boëlle, Laura Viviani, Pierre-Francois Busson, Hanne V Olesen, Sophie Ravilly, Martin Stern, Baroukh M Assael, Celeste Barreto, Pavel Drevinek, Muriel Thomas, Uros Krivec, Meir Mei-Zahav, Jean-François Vibert, Annick Clement, Anil Mehta, Harriet Corvol
An international registry for neurodegeneration with brain iron accumulation
Bernadette Kalman, Ronald Lautenschlaeger, Florian Kohlmayer, Boriana Büchner, Thomas Kmiec, Thomas Klopstock, Klaus A Kuhn
Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1
Rosa Nguyen, Eva Dombi, Brigitte C Widemann, Jeffrey Solomon, Carsten Fuensterer, Lan Kluwe, Jan M Friedman, Victor-Felix Mautner
Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency
Annamaria Chilosi, Manuela Casarano, Alessandro Comparini, Francesca Maria Battaglia, Margherita Maria Mancardi, Cristina Schiaffino, Michela Tosetti, Vincenzo Leuzzi, Roberta Battini, Giovanni Cioni
Dominant optic atrophy
Guy Lenaers, Christian Hamel, Cécile Delettre, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Pascal Reynier, Dan Milea
The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients
Jérôme Stirnemann, Marie Vigan, Dalil Hamroun, Djazia Heraoui, Linda Rossi-Semerano, Marc G Berger, Christian Rose, Fabrice Camou, Christine de Roux-Serratrice, Bernard Grosbois, Pierre Kaminsky, Alain Robert, Catherine Caillaud, Roselyne Froissart, Thierry Levade, Agathe Masseau, Cyril Mignot, Frédéric Sedel, Dries Dobbelaere, Marie T Vanier, Vassili Valayanopoulos, Olivier Fain, Bruno Fantin, Thierry Billette de Villemeur, France Mentré, Nadia Belmatoug
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies
Dominique P Germain, Roberto Giugliani, Derralynn A Hughes, Atul Mehta, Kathy Nicholls, Laura Barisoni, Charles J Jennette, Alexander Bragat, Jeff Castelli, Sheela Sitaraman, David J Lockhart, Pol F Boudes
Serological diagnosis of autoimmune bullous skin diseases: Prospective comparison of the BIOCHIP mosaic-based indirect immunofluorescence technique with the conventional multi-step single test strategy
Nina van Beek, Kristin Rentzsch, Christian Probst, Lars Komorowski, Michael Kasperkiewicz, Kai Fechner, Inga M Bloecker, Detlef Zillikens, Winfried Stöcker, Enno Schmidt
Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population
Thomas J Jaworek, Tasleem Kausar, Shannon M Bell, Nabeela Tariq, Muhammad Imran Maqsood, Asma Sohail, Muhmmmad Ali, Furhan Iqbal, Shafqat Rasool, Saima Riazuddin, Rehan S Shaikh, Zubair M Ahmed
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study
Catharina M L Touw, G Peter A Smit, Maaike de Vries, Johannis B C de Klerk, Annet M Bosch, Gepke Visser, Margot F Mulder, M Estela Rubio-Gozalbo, Bert Elvers, Klary E Niezen-Koning, Ronald J A Wanders, Hans R Waterham, Dirk-Jan Reijngoud, Terry G J Derks
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
Lijia Huang, Jodi Warman-Chardon, Melissa T Carter, Kathie L Friend, Tracy E Dudding, Jeremy Schwartzentruber, Ruobing Zou, Peter W Schofield, Stuart Douglas, Dennis E Bulman, Kym M Boycott
Hearing impairment in Stickler syndrome: a systematic review
Frederic R E Acke, Ingeborg J M Dhooge, Fransiska Malfait, Els M R De Leenheer
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study
Nadine AME van der Beek, Juna M de Vries, Marloes LC Hagemans, Wim CJ Hop, Marian A Kroos, John HJ Wokke, Marianne de Visser, Baziel GM van Engelen, Jan BM Kuks, Anneke J van der Kooi, Nicolette C Notermans, Karin G Faber, Jan JGM Verschuuren, Arnold JJ Reuser, Ans T van der Ploeg, Pieter A van Doorn
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency
Hugh J McMillan, Thea Worthylake, Jeremy Schwartzentruber, Chloe C Gottlieb, Sarah E Lawrence, Alex MacKenzie, Chandree L Beaulieu, Petra A W Mooyer, Ronald J A Wanders, Jacek Majewski, Dennis E Bulman, Michael T Geraghty, Sacha Ferdinandusse, Kym M Boycott
Early presentation of gait impairment in Wolfram Syndrome
Kristen A Pickett, Ryan P Duncan, James Hoekel, Bess Marshall, Tamara Hershey, Gammon M Earhart
Advanced therapies for the treatment of hemophilia: future perspectives
Antonio Liras, Cristina Segovia, Aline S Gabán
KL-6, a Human MUC1 Mucin, as a prognostic marker for diffuse alveolar hemorrhage syndrome
Yoshiko Kida, Shinichiro Ohshimo, Kohei Ota, Tomoko Tamura, Tadatsugu Otani, Kazunobu Une, Takuma Sadamori, Yasumasa Iwasaki, Francesco Bonella, Noboru Hattori, Nobuyuki Hirohashi, Josune Guzman, Ulrich Costabel, Nobuoki Kohno, Koichi Tanigawa
Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat
Mark Walterfang, Yin-Hsiu Chien, Jackie Imrie, Derren Rushton, Danielle Schubiger, Marc C Patterson
Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF) - more common than assumed? Report of four cases with transient NIHF and a review of the literature
Catharina Whybra, Eugen Mengel, Alexandra Russo, Franz Bahlmann, Christoph Kampmann, Michael Beck, Elke Eich, Eva Mildenberger
Reliability and validity of the Wolfram Unified Rating Scale (WURS)
Chau Nguyen, Erin R Foster, Alexander R Paciorkowski, Amy Viehoever, Colleen Considine, Aidena Bondurant, Bess A Marshall, Tamara Hershey
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms
David Cheillan, Marie Joncquel-Chevalier Curt, Gilbert Briand, Gajja S Salomons, Karine Mention-Mulliez, Dries Dobbelaere, Jean-Marie Cuisset, Laurence Lion-François, Vincent Des Portes, Allel Chabli, Vassili Valayannopoulos, Jean-François Benoist, Jean-Marc Pinard, Gilles Simard, Olivier Douay, Kumaran Deiva, Alexandra Afenjar, Delphine Héron, François Rivier, Brigitte Chabrol, Fabienne Prieur, François Cartault, Gaëlle Pitelet, Alice Goldenberg, Soumeya Bekri, Marion Gerard, Richard Delorme, Marc Tardieu, Nicole Porchet, Christine Vianey-Saban, Joseph Vamecq
Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis
Xiao-dan Yao, Xin Chen, Gao-yuan Huang, Yan-ting Yu, Shu-tian Xu, Yang-lin Hu, Qing-wen Wang, Hui-ping Chen, Cai-hong Zeng, Da-xi Ji, Wei-xin Hu, Zheng Tang, Zhi-hong Liu
Number of rare germline CNVs and TP53 mutation types
Amanda G Silva, Maria Isabel Waddington Achatz, Ana CV Krepischi, Peter L Pearson, Carla Rosenberg
Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study
Timothy M Cox, Dominick Amato, Carla EM Hollak, Cecile Luzy, Mariabeth Silkey, Ruben Giorgino, Robert D Steiner
Rescue of nonsense mutations by amlexanox in human cells
Sara Gonzalez-Hilarion, Terence Beghyn, Jieshuang Jia, Nadège Debreuck, Gonzague Berte, Kamel Mamchaoui, Vincent Mouly, Dieter C Gruenert, Benoit Déprez, Fabrice Lejeune
Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study
Jean-François Papon, Laurence Bassinet, Gwenaëlle Cariou-Patron, Francoise Zerah-Lancner, Anne-Marie Vojtek, Sylvain Blanchon, Bruno Crestani, Serge Amselem, Andre Coste, Bruno Housset, Estelle Escudier, Bruno Louis
Establishing a network of specialist Porphyria centres - effects on diagnostic activities and services
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