Issue 2/2014
Content (19 Articles)
Therapeutic hepatocyte transplant for inherited metabolic disorders: functional considerations, recent outcomes and future prospects
Kara R. Vogel, Andrew A. Kennedy, Luke A. Whitehouse, K. Michael Gibson
Cognitive dysfunction and depression in Fabry disease: a systematic review
Fay E. Bolsover, Elaine Murphy, Lisa Cipolotti, David J. Werring, Robin H. Lachmann
Living with an inborn error of metabolism detected by newborn screening—Parents’ perspectives on child development and impact on family life
Gwendolyn Gramer, Gisela Haege, Esther M. Glahn, Georg F. Hoffmann, Martin Lindner, Peter Burgard
Considering consent: a structural equation modelling analysis of factors influencing decisional quality when accepting newborn screening
Stuart G. Nicholls, Kevin W. Southern
Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis
Khalid Al-Thihli, Graham Sinclair, Sandra Sirrs, Michelle Mezei, Judie Nelson, Hilary Vallance
Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands
Jan Rasmussen, Olav W. Nielsen, Nils Janzen, Morten Duno, Lars Køber, Ulrike Steuerwald, Allan M. Lund
Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening
Jan Rasmussen, Lars Køber, Allan M. Lund, Olav W. Nielsen
Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency
Marzia Pasquali, Elisabeth Schwarz, Maren Jensen, Tatiana Yuzyuk, Irene DeBiase, Harper Randall, Nicola Longo
Tract-based evaluation of white matter damage in individuals with early-treated phenylketonuria
Huiling Peng, Dawn Peck, Desirée A. White, Shawn E. Christ
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients
Marisa I. S. Mendes, Henrique G. Colaço, Desirée E. C. Smith, Rúben J. J. F. Ramos, Ana Pop, Silvy J. M. van Dooren, Isabel Tavares de Almeida, Leo A. J. Kluijtmans, Mirian C. H. Janssen, Isabel Rivera, Gajja S. Salomons, Paula Leandro, Henk J. Blom
Glycosaminoglycan metabolism defects and atherosclerosis: frequent association of endothelial dysfunction in patients with Mucopolysaccharidosis
Shoji Yano, Kathryn Moseley, Lawrence Wong, Claudia Castelnovi, Colleen Azen, Zdena Pavlova
Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI
Piranit Nik Kantaputra, Hülya Kayserili, Yeliz Güven, Warissara Kantaputra, Mehmet C. Balci, Pranoot Tanpaiboon, Anusha Uttarilli, Ashwin Dalal
Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy
Christoph Kampmann, Christina Lampe, Catharina Whybra-Trümpler, Christiane M. Wiethoff, Eugen Mengel, Laila Arash, Michael Beck, Elke Miebach
Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI
Paul R. Harmatz, Paula Garcia, Nathalie Guffon, Linda M. Randolph, Renée Shediac, Elizabeth Braunlin, Ralph S. Lachman, Celeste Decker
Potential role of vitamin D deficiency on Fabry cardiomyopathy
Christiane Drechsler, Benjamin Schmiedeke, Markus Niemann, Daniel Schmiedeke, Johannes Krämer, Irina Turkin, Katja Blouin, Andrea Emmert, Stefan Pilz, Barbara Obermayer-Pietsch, Frank Weidemann, Frank Breunig, Christoph Wanner
Non-specific accumulation of glycosphingolipids in GNE myopathy
Katherine A. Patzel, Tal Yardeni, Erell Le Poëc-Celic, Petcharat Leoyklang, Heidi Dorward, Dominic S. Alonzi, Nikolay V. Kukushkin, Bixue Xu, Yongmin Zhang, Matthieu Sollogoub, Yves Blériot, William A. Gahl, Marjan Huizing, Terry D. Butters
Enzyme replacement therapy on hypophosphatasia mouse model
Hirotaka Oikawa, Shunji Tomatsu, Bisong Haupt, Adriana M. Montaño, Tsutomu Shimada, William S. Sly