Book Volume 10 2013

JIMD Reports - Volume 10

ISBN: 978-3-642-37333-6 (Print) 978-3-642-37334-3 (Online)

Table of contents (20 chapters)

  1. Front Matter

    Pages i-vi

  2. No Access


    Pages 1-9

    Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates

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    Pages 11-16

    Chitotriosidase Deficiency: A Mutation Update in an African Population

  4. No Access


    Pages 17-22

    NDUFS8-related Complex I Deficiency Extends Phenotype from “PEO Plus” to Leigh Syndrome

  5. No Access


    Pages 23-31

    Accuracy of Six Anthropometric Skinfold Formulas Versus Air Displacement Plethysmography for Estimating Percent Body Fat in Female Adolescents with Phenylketonuria

  6. No Access


    Pages 33-38

    Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease

  7. No Access


    Pages 39-40

    Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency

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    Pages 41-44

    MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation

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    Pages 45-52

    Differential Phonological Awareness Skills in Children with Classic Galactosemia: A Descriptive Study of Four Cases

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    Pages 53-56

    Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report

  11. No Access


    Pages 57-59

    Stem Cell Transplantation for Adult-Onset Krabbe Disease: Report of a Case

  12. No Access


    Pages 61-68

    Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population

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    Pages 69-78

    Simple, Fast, and Simultaneous Detection of Plasma Total Homocysteine, Methylmalonic Acid, Methionine, and 2-Methylcitric Acid Using Liquid Chromatography and Mass Spectrometry (LC/MS/MS)

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    Pages 79-82

    An Exceptional Family with Three Consecutive Generations Affected by Wilson Disease

  15. No Access


    Pages 83-85

    Sight-Threatening Phenylketonuric Encephalopathy in a Young Adult, Reversed by Diet

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    Pages 87-94

    Cardiac Ultrasound Findings in Infants with Severe (Hurler Phenotype) Untreated Mucopolysaccharidosis (MPS) Type I

  17. No Access


    Pages 95-102

    A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein

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    Pages 103-106

    Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy

  19. No Access


    Pages 107-111

    Pyruvate Dehydrogenase-E1α Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation

  20. Chapter

    Pages 113-117

    The Management of Pregnancy in Maple Syrup Urine Disease: Experience with Two Patients

  21. Chapter

    Pages 119-123

    Fatal and Unanticipated Cardiorespiratory Disease in a Two-Year-Old Child with Hurler Syndrome Following Successful Stem Cell Transplant