Book Volume 8 2013

JIMD Reports - Case and Research Reports, 2012/5

ISBN: 978-3-642-33432-0 (Print) 978-3-642-33433-7 (Online)

Table of contents (20 chapters)

  1. Front Matter

    Pages i-vii

  2. No Access


    Pages 1-6

    The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity

  3. No Access


    Pages 7-10

    The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE

  4. No Access


    Pages 11-15

    A Pilot Study of the Effect of (E, E)-2, 4-Undecadienal on the Offensive Odour of Trimethylamine

  5. No Access


    Pages 17-23

    ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients

  6. No Access


    Pages 25-30

    Unexplained Hypoglycemia During Continuous Nocturnal Gastric Drip-Feeding in a Patient with Glycogen Storage Disease Type Ia: Is It a Dumping-Like Syndrome?

  7. No Access


    Pages 31-39

    A Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-invasive Monitoring of Lysosomal Storage Disorders

  8. No Access


    Pages 41-46

    Orthotopic Liver Transplantation in an Adult with Cholesterol Ester Storage Disease

  9. No Access


    Pages 47-50

    Inheritance of the m.3243A>G mutation

  10. No Access


    Pages 51-56

    Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage

  11. No Access


    Pages 57-62

    cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period

  12. No Access


    Pages 63-72

    Mannose 6-Phosphate Conjugation Is Not Sufficient to Allow Induction of Immune Tolerance to Phenylalanine Ammonia-Lyase in Dogs

  13. Chapter

    Pages 73-80

    Association of Dopamine Receptor Gene Polymorphisms with the Clinical Course of Wilson Disease

  14. Chapter

    Pages 81-90

    Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

  15. Chapter

    Pages 91-99

    Fabry Disease in Latin America: Data from the Fabry Registry

  16. Chapter

    Pages 101-108

    Questioning the Pathogenic Role of the GLA p.Ala143Thr “Mutation” in Fabry Disease: Implications for Screening Studies and ERT

  17. Chapter

    Pages 109-119

    A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria

  18. Chapter

    Pages 121-132

    Neonatal Bone Marrow Transplantation in MPS IIIA Mice

  19. Chapter

    Pages 133-137

    Therapeutic Efficacy of Magnesium Valproate in Succinic Semialdehyde Dehydrogenase Deficiency

  20. Chapter

    Pages 139-144

    Barriers to Transplantation in Adults with Inborn Errors of Metabolism

  21. Chapter

    Pages 145-152

    Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165