Ausgabe Sonderheft 3/2010
Online Reports 2010
Inhalt (80 Artikel)
Vitamin D deficiency in patients with erythropoietic protoporphyria
J. M. C. Spelt, F. W. M. de Rooij, J. H. P. Wilson, A. A. M. Zandbergen
The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation
H. Puusepp, K. Kall, G. S. Salomons, I. Talvik, M. Männamaa, R. Rein, C. Jakobs, K. Õunap
Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies
P. Smits, R. J. Rodenburg, J. A. M. Smeitink, L. P. van den Heuvel
Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient
Agnieszka Jurecka, Blanka Stiburkova, Jakub Krijt, Wanda Gradowska, Anna Tylki-Szymanska
Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5′-phosphate availability
Shanti Balasubramaniam, Frank Bowling, Kevin Carpenter, John Earl, Jeffrey Chaitow, James Pitt, Etienne Mornet, David Sillence, Carolyn Ellaway
Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography–tandem mass spectrometry
Shunji Tomatsu, Adriana M. Montaño, Toshihiro Oguma, Vu Chi Dung, Hirotaka Oikawa, Talita Giacomet de Carvalho, María L. Gutiérrez, Seiji Yamaguchi, Yasuyuki Suzuki, Masaru Fukushi, Kazuhiro Kida, Mitsuru Kubota, Luis Barrera, Tadao Orii
The monitoring of trace elements in blood samples from patients with inborn errors of metabolism
Mireia Tondo, Nilo Lambruschini, Lilianne Gomez-Lopez, Alejandra Gutierrez, Juan Moreno, Angels García-Cazorla, Belén Pérez-Dueñas, Mercé Pineda, Jaume Campistol, Maria A. Vilaseca, Rafael Artuch
Pediatric Gaucher disease type I and mild growth hormone deficiency: a new feature?
Giacomo Biasucci, Piera Manfredi
Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia
Francois H. van der Westhuizen, Joél Smet, Oksana Levanets, Madelein Meissner-Roloff, Roan Louw, Rudy Van Coster, Izelle Smuts
Post-ictal psychosis in adolescent Niemann-Pick disease type C
Mark Walterfang, Andrew Kornberg, Sophia Adams, Michael Fietz, Dennis Velakoulis
Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution
Renzo Manara, Angelica Rampazzo, Mara Cananzi, Leonardo Salviati, Rodica Mardari, Paola Drigo, Rosella Tomanin, Nicoletta Gasparotto, Elena Priante, Maurizio Scarpa
Social-adaptive and psychological functioning of patients affected by Fabry disease
Dawn Alyssia Laney, Daniel J. Gruskin, Paul M. Fernhoff, Joseph F. Cubells, Opal Y. Ousley, Heather Hipp, Ami J. Mehta
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder
Sing-Chung Li, Chiao-Ming Chen, Jennifer L. Goldstein, Jer-Yuarn Wu, Emmanuelle Lemyre, Thomas Andrew Burrow, Peter B. Kang, Yuan-Tsong Chen, Deeksha S. Bali
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach
Francesca Catanzano, Daniela Ombrone, Cristina Di Stefano, Anna Rossi, Norberto Nosari, Emanuela Scolamiero, Igor Tandurella, Giulia Frisso, Giancarlo Parenti, Margherita Ruoppolo, Generoso Andria, Francesco Salvatore
An overview of a cohort of South African patients with mitochondrial disorders
Izelle Smuts, Roan Louw, Hanli du Toit, Brenda Klopper, Lodewyk J. Mienie, Francois H. van der Westhuizen
Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type II
Beatriz San Millan, Susana Teijeira, Carmen Domínguez, Irene Vieitez, Carmen Navarro
Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis
Cristine Åsberg, Ola Hjalmarson, Jan Alm, Tommy Martinsson, Johan Waldenström, Christina Hellerud
The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?
A. A. Broomfield, A. Chakrapani, J. E. Wraith
Genotype–phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency
Curtis R. Coughlin II, Can Ficicioglu
Four years of expanded newborn screening in Portugal with tandem mass spectrometry
Laura Vilarinho, Hugo Rocha, Carmen Sousa, Ana Marcão, Helena Fonseca, Mário Bogas, Rui Vaz Osório
Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome
Jaap A. Bakker, Patrick Schlesser, Hubert J. M. Smeets, Baudouin Francois, Jörgen Bierau
Combined hyperlipidemia in patients with lysinuric protein intolerance
Laura M. Tanner, Harri Niinikoski, Kirsti Näntö-Salonen, Olli Simell
Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries
Aditi I. Dagli, Philip J. Lee, Catherine E. Correia, Christina Rodriguez, Kaustav Bhattacharya, Linda Steinkrauss, Charles A. Stanley, David A. Weinstein
Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations
Bee Chin Chen, Ivan N. McGown, Meow Keong Thong, James Pitt, Zabedah M. Yunus, Teck Beng Khoo, Lock Hock Ngu, John A. Duley
Long-term follow-up of patients with phenylketonuria receiving tetrahydrobiopterin treatment
Friedrich K. Trefz, D. Scheible, G. Frauendienst-Egger
Successful allogeneic bone marrow transplant for Niemann–Pick disease type C2 is likely to be associated with a severe ‘graft versus substrate’ effect
Denise K. Bonney, Anne O’Meara, Abdu Shabani, Jackie Imrie, Brian W. Bigger, Simon Jones, James E. Wraith, Robert F. Wynn
Profound biotinidase deficiency: a rare disease among native Swedes
Annika Ohlsson, Claes Guthenberg, Elisabeth Holme, Ulrika von Döbeln
Fatal cerebral edema associated with serine deficiency in CSF
Irene M. L. W. Keularts, Piet L. J. M. Leroy, Estela M. Rubio-Gozalbo, Leo J. M. Spaapen, Biene Weber, Bert Dorland, Tom J. de Koning, Nanda M. Verhoeven-Duif
Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease
Paula Fernández-Guerra, Rosa Navarrete, Kara Weisiger, Lourdes R. Desviat, Seymour Packman, Magdalena Ugarte, Pilar Rodríguez-Pombo
Optic neuropathy in methylmalonic acidemia: the role of neuroprotection
Sergio Pinar-Sueiro, Ricardo Martínez-Fernández, Sergio Lage-Medina, Luis Aldamiz-Echevarria, Elena Vecino
Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction
L. T. W. Schreuder, M. W. G. Nijhuis-van der Sanden, A. de Hair, G. Peters, S. Wortmann, L. A. Bok, E. Morava
Aminoacylase 1 deficiency associated with autistic behavior
Anna Tylki-Szymanska, Wanda Gradowska, Anke Sommer, Angelina Heer, Melanie Walter, Christina Reinhard, Heymut Omran, Jörn Oliver Sass, Agnieszka Jurecka
Glycogen storage disease type III in the Irish population
Ellen Crushell, Eileen P. Treacy, J. Dawe, M. Durkie, Nicholas J. Beauchamp
Mitochondrial tRNALeu(UUR) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study
Diana Ballhausen, Frédéric Guerry, Dagmar Hahn, André Schaller, Jean-Marc Nuoffer, Luisa Bonafé, Pierre-Yves Jeannet, Sebastien Jacquemont
Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance
J. Kirk, K. M. Porter, V. Parker, I. Barroso, S. O’Rahilly, C. Hendriksz, R. K. Semple
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease
Karl Heinz Weiss, Heiko Runz, Barbara Noe, Daniel Nils Gotthardt, Uta Merle, Peter Ferenci, Wolfgang Stremmel, Joachim Füllekrug
Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?
Aleksandra Jezela-Stanek, Elżbieta Ciara, Ewa Małunowicz, Krystyna Chrzanowska, Anna Latos-Bieleńska, Małgorzata Krajewska-Walasek
Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha
Akemi Tanaka, Taisuke Takeda, Takao Hoshina, Kazuyoshi Fukai, Tsunekazu Yamano
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy
E. J. Footitt, J. Stafford, M. Dixon, M. Burch, C. Jakobs, G. S. Salomons, M. A. Cleary
Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy
Osvaldo Artigalás, Valeska Lizzi Lagranha, Maria Luiza Saraiva-Pereira, Maira Graeff Burin, Charles Marques Lourenço, Hélio van der Linden Jr, Mara Lúcia Ferreira Santos, Sergio Rosemberg, Carlos Eduardo Steiner, Fernando Kok, Carolina F. Moura de Souza, Laura B. Jardim, Roberto Giugliani, Ida Vanessa Schwartz
Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications
Zuhair N. Al-Hassnan, Faiqa Imtiaz, Mohamed Al-Amoudi, Zuhair Rahbeeni, Moeen Al-Sayed, Mohammed Al-Owain, Hamad Al-Zaidan, Ali Al-Odaib, Mohamed S. Rashed
Transcobalamin deficiency caused by compound heterozygosity for two novel mutations in the TCN2 gene: a study of two affected siblings, their brother, and their parents
Peter H. Nissen, Maria Nordwall, Elke Hoffmann-Lücke, Boe S. Sorensen, Ebba Nexo
Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan
AbdulRazaq A. H. Sokoro, Joyce Lepage, Nick Antonishyn, Ryan McDonald, Cheryl Rockman-Greenberg, James Irvine, Denis C. Lehotay
Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage
Monique Albersen, Marjolein Bonthuis, Nicole M. de Roos, Dorine A. M. van den Hurk, Ems Carbasius Weber, Margriet M. W. B. Hendriks, Monique G. M. de Sain-van der Velden, Tom J. de Koning, Gepke Visser
High frequencies of biotinidase (BTD) gene mutations in the Hungarian population
Ilona Milánkovics, Krisztina Németh, Csilla Somogyi, Ágnes Schuler, György Fekete
Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing
Aleix Navarro-Sastre, Maria Teresa García-Silva, Elena Martín-Hernández, Montserrat Lluch, Paz Briones, Antonia Ribes
Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease)
Helena Hůlková, Milan Elleder
Past, present and future of newborn screening in Chile
V. Cornejo, E. Raimann, J. F. Cabello, A. Valiente, C. Becerra, M. Opazo, M. Colombo
A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene
Toshiyuki Fukao, Tomohiro Ishii, Naoko Amano, Petri Kursula, Masaki Takayanagi, Keiko Murase, Naomi Sakaguchi, Naomi Kondo, Tomonobu Hasegawa
Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain
Ester Quintana, Mercé Pineda, Aida Font, Maria Antonia Vilaseca, Frederic Tort, Antonia Ribes, Paz Briones
Simultaneous LC-MS/MS determination of phenylbutyrate, phenylacetate benzoate and their corresponding metabolites phenylacetylglutamine and hippurate in blood and urine
Maurice D. Laryea, Diran Herebian, Thomas Meissner, Ertan Mayatepek
Pulmonary hemorrhage in type 3 Gaucher disease: a case report
Ashok Vellodi, Michael Ashworth, Niamh Finnegan, Colin Wallis
Antenatal diagnosis of pompe disease by fetal echocardiography: impact on outcome after early initiation of enzyme replacement therapy
Mohamed A. Hamdan, Bushra A. El-Zoabi, Muzibunnisa A. Begam, Hisham M. Mirghani, Mohamed H. Almalik
Expanded newborn screening in Greece: 30 months of experience
Yannis L. Loukas, Georgios-Stefanos Soumelas, Yannis Dotsikas, Vassiliki Georgiou, Elina Molou, Georgia Thodi, Maria Boutsini, Sofia Biti, Konstantinos Papadopoulos
An adult onset case of alpha-methyl-acyl-CoA racemase deficiency
Emily Helen Smith, Dimitar K. Gavrilov, Devin Oglesbee, William D. Freeman, Michael W. Vavra, Dietrich Matern, Silvia Tortorelli
Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up
Marcella Masciullo, Massimo Santoro, Anna Modoni, Enzo Ricci, Jerome Guitton, Pietro Tonali, Gabriella Silvestri
Fatty acid profile in patients with phenylketonuria and its relationship with bone mineral density
Sergio Lage, María Bueno, Fernando Andrade, José Ángel Prieto, Carmen Delgado, María Legarda, Pablo Sanjurjo, Luis Jose Aldámiz-Echevarría
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland
Dorota Piekutowska-Abramczuk, Rikke K. J. Olsen, Jolanta Wierzba, Ewa Popowska, Dorota Jurkiewicz, Elżbieta Ciara, Mariusz Ołtarzewski, Wanda Gradowska, Jolanta Sykut-Cegielska, Małgorzata Krajewska-Walasek, Brage S. Andresen, Niels Gregersen, Ewa Pronicka
Dietary modifications in patients receiving miglustat
H. Champion, U. Ramaswami, J. Imrie, R. H. Lachmann, J. Gallagher, T. M. Cox, J. E. Wraith
Case report: long-term outcome post-heart transplantation in a woman with Fabry’s disease
Flavia Verocai, Joe Thomas Clarke, Robert M. Iwanochko
Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report
Monica Del Rizzo, Marina Fanin, Alessia Cerutti, Chiara Cazzorla, Ornella Milanesi, Anna Chiara Nascimbeni, Corrado Angelini, Laura Giordano, Andrea Bordugo, Alberto B. Burlina
Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter Syndrome)
James E. Davison, Christian J. Hendriksz, Yu Sun, Nigel P. Davies, Paul Gissen, Andrew C. Peet
Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency
Sintha D. Sie, Rogier C. J. de Jonge, Henk J. Blom, Margot F. Mulder, Jochen Reiss, R. J. Vermeulen, Cacha M. P. C. D. Peeters-Scholte
Treatment of cobalamin C (cblC) deficiency during pregnancy
Catherine Brunel-Guitton, Teresa Costa, Grant A. Mitchell, Marie Lambert
Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I
Martijn J. de Groot, Marcel Cuppen, Marc Eling, Frans W. Verheijen, Edmond H. H. M. Rings, Dirk-Jan Reijngoud, Maaike M. C. de Vries, Francjan J. van Spronsen
Tyrosine monitoring in children with early and continuously treated phenylketonuria: results of an international practice survey
Rachael Sharman, Karen A. Sullivan, Ross McD. Young, James J. McGill
Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan
Hsiang-Yu Lin, Ming-Ren Chen, Chih-Kuang Chuang, Chih-Ping Chen, Dar-Shong Lin, Yin-Hsiu Chien, Yu-Yuan Ke, Fuu-Jen Tsai, Hui-Ping Pan, Shio-Jean Lin, Wuh-Liang Hwu, Dau-Ming Niu, Ni-Chung Lee, Shuan-Pei Lin
Misdiagnosis of Niemann-Pick disease type C as Gaucher disease
Sarah M. Lo, Joseph McNamara, Margherita R. Seashore, Pramod K. Mistry
Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China
Fei Wang, Lianshu Han, Yanling Yang, Xuefan Gu, Jun Ye, Wenjuan Qiu, Huiwen Zhang, Yafen Zhang, XiaoLan Gao, Yu Wang
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy
Magalie Barth, Chris Ottolenghi, Laurence Hubert, Dominique Chrétien, Valérie Serre, Stéphanie Gobin, Stéphane Romano, Anne Vassault, Aziz Sefiani, Daniel Ricquier, Nathalie Boddaert, Michèle Brivet, Yves de Keyzer, Arnold Munnich, Marinus Duran, Daniel Rabier, Vassili Valayannopoulos, Pascale de Lonlay
Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations
Irene Paradisi, Sergio Arias
Exacerbation of erythropoietic protoporphyria by hyperthyroidism
Elisabeth I. Minder, Andreas R. Haldemann, Xiaoye Schneider-Yin
Haematopoietic stem cell transplantation does not retard disease progression in the psycho-cognitive variant of late-onset metachromatic leukodystrophy
Nicholas J. Smith, Robert E. Marcus, Barbara J. Sahakian, Narinder Kapur, Timothy M. Cox
Klüver Bucy syndrome following hypoglycaemic coma in a patient with glycogen storage disease type Ib
Alix Mollet Boudjemline, Arnaud Isapof, Jean-Bernard Witas, François M. Petit, Vincent Gajdos, Philippe Labrune
Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle
Lynne A. Wolfe, Miao He, Jerry Vockley, Nicole Payne, William Rhead, Charles Hoppel, Elaine Spector, Kim Gernert, K. Michael Gibson
Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients
Hui Bein Chew, Lock Hock Ngu, Md Yunus Zabedah, Wee Teik Keng, Shanti Balasubramaniam, Mohd Jamil M. Hanifah, Keiko Kobayashi
Seizures and stupor during intravenous mannose therapy in a patient with CDG syndrome type 1b (MPI-CDG)
A. Sebastian Schroeder, Matthias Kappler, Michaela Bonfert, Ingo Borggraefe, Carola Schoen, Karl Reiter
Neonatal cholestasis: an uncommon presentation of hyperargininemia
Esmeralda Gomes Martins, Ermelinda Santos Silva, Silvia Vilarinho, Jean Marie Saudubray, Laura Vilarinho
Maternal and fetal tyrosinemia type I
N. Garcia Segarra, S. Roche, A. Imbard, J. F. Benoist, M. O. Grenèche, A. Davit-Spraul, H. Ogier de Baulny