JIMD Reports - Case and Research Reports, 2012/1

Chapter 29 JIMD Reports - Case and Research Reports, 2012/1

Chapter 41 Glycine and l-Arginine Treatment Causes Hyperhomocysteinemia in Cerebral Creatine Transporter Deficiency Patients

Chapter 55 Cystic Fibrosis Newborn Screening: Distribution of Blood Immunoreactive Trypsinogen Concentrations in Hypertrypsinemic Neonates

Chapter 63 Gastrointestinal Phenotype of Fabry Disease in a Patient with Pseudoobstruction Syndrome

Chapter 64 Generation of a Human Neuronal Stable Cell Model for Niemann-Pick C Disease by RNA Interference

Chapter 68 Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.

Chapter 73 Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome

Chapter 74 Epilepsy in biotinidase deficiency after biotin treatment.

Chapter 75 Plasmatic and Urinary Glycosaminoglycans Characterization in Mucopolysaccharidosis II Patient Treated with Enzyme-Replacement Therapy with Idursulfase

Chapter 77 Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients

Chapter 78 JIMD Reports - Case and Research Reports, 2012/1

Chapter 79 Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype

Chapter 81 A Non-classical Presentation of Tangier Disease with Three ABCA1 Mutations

Chapter 82 Lymphatic Edema in Congenital Disorders of Glycosylation

Chapter 83 Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient

Chapter 84 The Paradox of Hyperdopaminuria in Aromatic l-Amino Acid Deficiency Explained

Chapter 86 A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction

Chapter 90 Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II)

Chapter 91 Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis

Chapter 108 Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant Genetic Testing