JIMD Reports - Case and Research Reports, 2012/6

Front Matter....Pages i-vi
Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency....Pages 1-5
Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease....Pages 7-16
Prevalence and Development of Orthopaedic Symptoms in the Dutch Hurler Patient Population after Haematopoietic Stem Cell Transplantation....Pages 17-29
Nutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH 4 )....Pages 31-40
Effects of Switching from Agalsidase Beta to Agalsidase Alfa in 10 Patients with Anderson-Fabry Disease....Pages 41-48
Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S....Pages 49-58
Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients....Pages 59-65
Ceftriaxone for Alexander’s Disease: A Four-Year Follow-Up....Pages 67-71
Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2 ....Pages 73-80
The Mild Form of Menkes Disease: A 34 Year Progress Report on the Original Case....Pages 81-84
Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene....Pages 85-91
A Young Adult with Sarcosinemia. No Benefit from Long Duration Treatment with Memantine....Pages 93-96
Amino Acid Profiles in Patients with Urea Cycle Disorders at Admission to Hospital due to Metabolic Decompensation....Pages 97-104
Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA Ser(UCN) and Review of Published Cases....Pages 105-111
Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy....Pages 113-116
Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process....Pages 117-120
Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS)....Pages 121-124
Leptin Levels in Children and Adults with Classic Galactosaemia....Pages 125-131
CRIM-Negative Pompe Disease Patients with Satisfactory Clinical Outcomes on Enzyme Replacement Therapy....Pages 133-137
Partial Pyridoxine Responsiveness in PNPO Deficiency....Pages 139-142
Erratum to: Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA Ser(UCN) and Review of Published Cases....Pages E1-E1