دانلود کتاب JIMD Reports, Volume 36

فهرست مطالب :

Front Matter ....Pages i-vi
False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency (Grace Stuhrman, Stefanie J. Perez Juanazo, Kea Crivelly, Jennifer Smith, Hans Andersson, Eva Morava)....Pages 1-5
Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach (Saskia Koene, Ilse Dirks, Esmee van Mierlo, Pascal R. de Vries, Anjo J. W. M. Janssen, Jan A. M. Smeitink et al.)....Pages 7-17
Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C (Alberto Benussi, Maria Sofia Cotelli, Maura Cosseddu, Valeria Bertasi, Marinella Turla, Ettore Salsano et al.)....Pages 19-27
Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS (Mette Borch Nørmark, Nanna Kjaer, Allan Meldgaard Lund)....Pages 29-33
Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved? (Jan Rasmussen, David M. Hougaard, Noreen Sandhu, Katrine Fjællegaard, Poula R. Petersen, Ulrike Steuerwald et al.)....Pages 35-40
The Spectrum of Niemann-Pick Type C Disease in Greece (Irene Mavridou, Evangelia Dimitriou, Marie T. Vanier, Lluisa Vilageliu, Daniel Grinberg, Philippe Latour et al.)....Pages 41-48
What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients? (Esther van Dam, Anne Daly, Gineke Venema-Liefaard, Margreet van Rijn, Terry G. J. Derks, Patrick J. McKiernan et al.)....Pages 49-57
A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica (Tanya Lobo-Prada, Heinrich Sticht, Sixto Bogantes-Ledezma, Arif Ekici, Steffen Uebe, André Reis et al.)....Pages 59-66
Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency (Kathryn E. Coakley, Eric I. Felner, Vin Tangpricha, Peter W. F. Wilson, Rani H. Singh)....Pages 67-77
Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1 (Evelyn M. Wong, Anna Lehman, Philip Acott, Jane Gillis, Daniel L. Metzger, Sandra Sirrs)....Pages 79-84
Widespread Expression of a Membrane-Tethered Version of the Soluble Lysosomal Enzyme Palmitoyl Protein Thioesterase-1 (Charles Shyng, Shannon L. Macauley, Joshua T. Dearborn, Mark S. Sands)....Pages 85-92
Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency (S. S. Johansen, X. Wang, D. Sejer Pedersen, P. L. Pearl, J.-B. Roullet, G. R. Ainslie et al.)....Pages 93-98
An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United Kingdom (Danja Schulenburg-Brand, Tricia Gardiner, Simon Guppy, David C. Rees, Penelope Stein, Julian Barth et al.)....Pages 99-107
Altered Cellular Homeostasis in Murine MPS I Fibroblasts: Evidence of Cell-Specific Physiopathology (Gustavo Monteiro Viana, Cinthia Castro do Nascimento, Edgar Julian Paredes-Gamero, Vânia D’Almeida)....Pages 109-116
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency (Patrick Ferreira, Alicia Chan, Barry Wolf)....Pages 117-120