JIMD Reports - Case and Research Reports, 2011/2

Front Matter....Pages i-vii
Phenotype–Genotype Discrepancy Due to a 5.5-kb Deletion in the GALT Gene....Pages 1-5
Cardiac Arrest in Kearns–Sayre Syndrome....Pages 7-10
Immune Modulation Therapy in a CRIM-Positive and IgG Antibody-Positive Infant with Pompe Disease Treated with Alglucosidase Alfa: A Case Report....Pages 11-15
Carpal Tunnel Syndrome in Fabry Disease....Pages 17-23
A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene....Pages 25-28
Onset of Adreno-Leukodystrophy After Medulloblastoma Therapy: Causal Connection or Coincidence?....Pages 29-32
Successful Plasmapheresis for Acute and Severe Unconjugated Hyperbilirubinemia in a Child with Crigler Najjar Type I Syndrome....Pages 33-36
Treatment with Lactose (Galactose)-Restricted and Medium-Chain Triglyceride-Supplemented Formula for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency....Pages 37-44
Fatal Myocardial Infarction at 4.5 Years in a Case of Homozygous Familial Hypercholesterolaemia....Pages 45-50
The Oral Health Needs of Children, Adolescents and Young Adults Affected by a Mucopolysaccharide Disorder....Pages 51-58
Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking....Pages 59-69
3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency: Identification of a New Mutation Causing Hyperinsulinemic Hypoketotic Hypoglycemia, Altered Organic Acids and Acylcarnitines Concentrations....Pages 71-77
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia....Pages 79-85
Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report....Pages 87-90
Long-Term Pharmacological Management of Phenylketonuria, Including Patients Below the Age of 4 Years....Pages 91-96
Short-Term Outcome of Propionic Aciduria Treated at Presentation with N-Carbamylglutamate: A Retrospective Review of Four Patients....Pages 97-102
Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI....Pages 103-106
Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping....Pages 107-111
Galactosemia Screening with Low False-Positive Recall Rate: The Swedish Experience....Pages 113-117
Efficacy of Vigabatrin Intervention in a Mild Phenotypic Expression of Succinic Semialdehyde Dehydrogenase Deficiency....Pages 119-123