Book Volume 7 2013

JIMD Reports - Case and Research Reports, 2012/4

ISBN: 978-3-642-32441-3 (Print) 978-3-642-32442-0 (Online)

Table of contents (20 chapters)

  1. Front Matter

    Pages i-vii

  2. No Access


    Pages 1-6

    Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency

  3. No Access


    Pages 7-12

    Temporal Intradiploic Dilative Vasculopathy: An Additional Pathogenic Factor for the Hearing Loss in Fabry Disease?

  4. No Access


    Pages 13-18

    Hereditary Intrinsic Factor Deficiency in Chaldeans

  5. No Access


    Pages 19-26

    Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene

  6. No Access


    Pages 27-29

    Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency

  7. No Access


    Pages 31-37

    Quality of Life of Brazilian Patients with Gaucher Disease and Fabry Disease

  8. No Access


    Pages 39-48

    Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease

  9. No Access


    Pages 49-54

    Successful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embryos by Specific Mutation Analysis and Elective Single Embryo Transfer

  10. No Access


    Pages 55-58

    The Transforming Growth Factor-Beta Signaling Pathway Involvement in Cardiovascular Lesions in Mucopolysaccharidosis-I

  11. No Access


    Pages 59-62

    Recommendations for Pregnancies in Patients with Crigler-Najjar Syndrome

  12. No Access


    Pages 63-66

    Autism Spectrum Disorder in a Child with Propionic Acidemia

  13. No Access


    Pages 67-75

    Urinary Neopterin and Phenylalanine Loading Test as Tools for the Biochemical Diagnosis of Segawa Disease

  14. No Access


    Pages 77-79

    β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype

  15. No Access


    Pages 81-88

    In Vivo Bone Architecture in Pompe Disease Using High-Resolution Peripheral Computed Tomography

  16. Chapter

    Pages 89-98

    A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4′-epimerase (GALE)

  17. Chapter

    Pages 99-102

    Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease

  18. No Access


    Pages 103-108

    High Incidence of Symptomatic Hyperammonemia in Children with Acute Lymphoblastic Leukemia Receiving Pegylated Asparaginase

  19. Chapter

    Pages 109-116

    Nutritional Consequences of Adhering to a Low Phenylalanine Diet for Late-Treated Adults with PKU

  20. Chapter

    Pages 117-122

    Did the Temporary Shortage in Supply of Imiglucerase Have Clinical Consequences? Retrospective Observational Study on 34 Italian Gaucher Type I Patients

  21. Chapter

    Pages 123-128

    5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes