JIMD Reports - Case and Research Reports, 2012/1

Front Matter....Pages i-vii
Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant Genetic Testing....Pages 1-4
Mitochondrial Respiratory Chain Hepatopathies: Role of Liver Transplantation. A Case Series of Five Patients....Pages 5-11
Glycine and l -Arginine Treatment Causes Hyperhomocysteinemia in Cerebral Creatine Transporter Deficiency Patients....Pages 13-16
Cystic Fibrosis Newborn Screening: Distribution of Blood Immunoreactive Trypsinogen Concentrations in Hypertrypsinemic Neonates....Pages 17-23
Gastrointestinal Phenotype of Fabry Disease in a Patient with Pseudoobstruction Syndrome....Pages 25-28
Generation of a Human Neuronal Stable Cell Model for Niemann-Pick C Disease by RNA Interference....Pages 29-37
The Paradox of Hyperdopaminuria in Aromatic l -Amino Acid Deficiency Explained....Pages 39-45
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2 : Indications for Secondary Mitochondrial Dysfunction....Pages 47-54
Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database....Pages 55-65
Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome....Pages 67-73
Epilepsy in Biotinidase Deficiency After Biotin Treatment....Pages 75-78
Plasmatic and Urinary Glycosaminoglycans Characterization in Mucopolysaccharidosis II Patient Treated with Enzyme-Replacement Therapy with Idursulfase....Pages 79-90
Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients....Pages 91-97
Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of α-Mannosidosis....Pages 99-102
Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype....Pages 103-108
A Non-classical Presentation of Tangier Disease with Three ABCA1 Mutations....Pages 109-111
Lymphatic Edema in Congenital Disorders of Glycosylation....Pages 113-116
Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta ( GNPTAB ) Gene in a MLII Alpha/Beta Patient....Pages 117-124
Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II)....Pages 125-128
Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis....Pages 129-137