JIMD Reports – Case and Research Reports, 2012/6

Chapter 173 Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency

Chapter 174 Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease

Chapter 175 Prevalence and Development of Orthopaedic Symptoms in the Dutch Hurler Patient Population after Haematopoietic Stem Cell Transplantation

Chapter 176 Nutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH(4)).

Chapter 177 Effects of switching from agalsidase Beta to agalsidase alfa in 10 patients with anderson-fabry disease.

Chapter 178 Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S

Chapter 179 Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients

Chapter 180 Ceftriaxone for Alexander’s Disease: A Four-Year Follow-Up

Chapter 181 Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2 : C48R: A Novel Mutation in AGPAT2.

Chapter 183 The Mild Form of Menkes Disease: A 34 Year Progress Report on the Original Case

Chapter 184 Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene

Chapter 185 A Young Adult with Sarcosinemia. No Benefit from Long Duration Treatment with Memantine

Chapter 186 Amino Acid Profiles in Patients with Urea Cycle Disorders at Admission to Hospital due to Metabolic Decompensation

Chapter 187 Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA Ser(UCN) and Review of Published Cases

Chapter 188 Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy

Chapter 189 Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process

Chapter 190 Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS)

Chapter 191 JIMD Reports - Case and Research Reports, 2012/6

Chapter 192 CRIM-Negative Pompe Disease Patients with Satisfactory Clinical Outcomes on Enzyme Replacement Therapy

Chapter 194 Partial Pyridoxine Responsiveness in PNPO Deficiency

Chapter 195 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

Chapter 196 Erratum to: Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2