JIMD Reports - Case and Research Reports, 2011/3

Chapter 31 JIMD Reports - Case and Research Reports, 2011/3

Chapter 33 Large Mitochondrial DNA Deletion in an Infant with Addison Disease

Chapter 35 Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark

Chapter 36 Identification of Mutations and Evaluation of Cardiomyopathy in Turkish Patients with Primary Carnitine Deficiency

Chapter 43 Kinetic Analyses Guide the Therapeutic Decision in a Novel Form of Moderate Aromatic Acid Decarboxylase Deficiency

Chapter 44 Effect of Reduced Agalsidase Beta Dosage in Fabry Patients: The Australian Experience

Chapter 47 Miglustat Treatment May Reduce Cerebrospinal Fluid Levels of the Axonal Degeneration Marker Tau in Niemann–Pick Type C

Chapter 48 A Twelve-Year Follow-Up Study on a Case of Early-Onset Parkinsonism Preceding Clinical Manifestation of Gaucher Disease

Chapter 58 Differential Expression of Matrix Metalloproteinases in the Serum of Patients with Mucopolysaccharidoses

Chapter 61 COG5-CDG with a Mild Neurohepatic Presentation

Chapter 62 Partial Rescue of Biochemical Parameters After Hematopoietic Stem Cell Transplantation in a Patient with Prolidase Deficiency Due to Two Novel PEPD Mutations

Chapter 65 Levodopa Response Reveals Sepiapterin Reductase Deficiency in a Female Heterozygote with Adrenoleukodystrophy

Chapter 66 Biochemical Monitoring and Management During Pregnancy in Patients with Isovaleric Acidaemia is Helpful to Prevent Metabolic Decompensation

Chapter 67 Hyperoxaluria and rapid development of renal failure following a combined liver and kidney transplantation: emphasis on sequential transplantation.

Chapter 69 JIMD Reports - Case and Research Reports, 2011/3

Chapter 70 Liver Failure with Coagulopathy, Hyperammonemia and Cyclic Vomiting in a Toddler Revealed to Have Combined Heterozygosity for Genes Involved with Ornithine Transcarbamylase Deficiency and Wilson Disease

Chapter 71 Adult-Onset Presentation of a Hyperornithinemia-Hyperammonemia-Homocitrullinuria Patient Without Prior History of Neurological Complications

Chapter 72 Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1

Chapter 76 Altered Carbon Dioxide Metabolism and Creatine Abnormalities in Rett Syndrome

Chapter 80 Molecular Genetic Characterization of Novel Sphingomyelin Phosphodiesterase 1 Mutations Causing Niemann–Pick Disease