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JIMD Reports - Case and Research Reports, 2011/2

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Cover of 'JIMD Reports - Case and Research Reports, 2011/2'

Table of Contents

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    Book Overview
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    Chapter 30 Phenotype–Genotype Discrepancy Due to a 5.5-kb Deletion in the GALT Gene
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    Chapter 32 Cardiac Arrest in Kearns–Sayre Syndrome
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    Chapter 34 Immune Modulation Therapy in a CRIM-Positive and IgG Antibody-Positive Infant with Pompe Disease Treated with Alglucosidase Alfa: A Case Report
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    Chapter 37 Carpal Tunnel Syndrome in Fabry Disease
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    Chapter 38 A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene.
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    Chapter 39 Onset of Adreno-Leukodystrophy After Medulloblastoma Therapy: Causal Connection or Coincidence?
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    Chapter 40 Successful Plasmapheresis for Acute and Severe Unconjugated Hyperbilirubinemia in a Child with Crigler Najjar Type I Syndrome
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    Chapter 42 Treatment with Lactose (Galactose)-Restricted and Medium-Chain Triglyceride-Supplemented Formula for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency
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    Chapter 45 Fatal Myocardial Infarction at 4.5 Years in a Case of Homozygous Familial Hypercholesterolaemia
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    Chapter 46 The Oral Health Needs of Children, Adolescents and Young Adults Affected by a Mucopolysaccharide Disorder
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    Chapter 49 Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking.
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    Chapter 50 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency: Identification of a New Mutation Causing Hyperinsulinemic Hypoketotic Hypoglycemia, Altered Organic Acids and Acylcarnitines Concentrations
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    Chapter 51 Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia
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    Chapter 52 Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report
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    Chapter 53 Long-Term Pharmacological Management of Phenylketonuria, Including Patients Below the Age of 4 Years
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    Chapter 54 Short-Term Outcome of Propionic Aciduria Treated at Presentation with N-Carbamylglutamate: A Retrospective Review of Four Patients
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    Chapter 56 Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI
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    Chapter 57 Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping
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    Chapter 59 Galactosemia Screening with Low False-Positive Recall Rate: The Swedish Experience
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    Chapter 60 Efficacy of Vigabatrin Intervention in a Mild Phenotypic Expression of Succinic Semialdehyde Dehydrogenase Deficiency
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Title
JIMD Reports - Case and Research Reports, 2011/2
Published by
Springer Berlin Heidelberg, November 2011
DOI 10.1007/978-3-642-24758-3
ISBNs
978-3-64-224757-6, 978-3-64-224758-3
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