Volume 12 2014

JIMD Reports - Volume 12

ISBN: 978-3-319-03460-7 (Print) 978-3-319-03461-4 (Online)

Table of contents (20 chapters)

  1. Front Matter

    Pages i-vi

  2. No Access

    Book Chapter

    Pages 1-4

    Propionic Acidemia and Optic Neuropathy: A Report of Two Cases

  3. No Access

    Book Chapter

    Pages 5-10

    Chronic Kidney Disease in an Adult with Propionic Acidemia

  4. No Access

    Book Chapter

    Pages 11-15

    Transient Massive Trimethylaminuria Associated with Food Protein–Induced Enterocolitis Syndrome

  5. No Access

    Book Chapter

    Pages 17-23

    Increased Prevalence of Hypertension in Young Adults with High Heteroplasmy Levels of the MELAS m.3243A>G Mutation

  6. No Access

    Book Chapter

    Pages 25-29

    Niemann-Pick Disease Type C: New Aspects in a Long Published Family – Partial Manifestations in Heterozygotes

  7. No Access

    Book Chapter

    Pages 31-35

    Chiari 1 Malformation and Holocord Syringomyelia in Hunter Syndrome

  8. No Access

    Book Chapter

    Pages 37-45

    A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment

  9. No Access

    Book Chapter

    Pages 47-50

    Pulmonary Manifestations in a Patient with Transaldolase Deficiency

  10. No Access

    Book Chapter

    Pages 51-63

    Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility

  11. No Access

    Book Chapter

    Pages 65-69

    A Japanese Adult Case of Guanidinoacetate Methyltransferase Deficiency

  12. No Access

    Book Chapter

    Pages 71-77

    Accumulation of Ordered Ceramide-Cholesterol Domains in Farber Disease Fibroblasts

  13. No Access

    Book Chapter

    Pages 79-84

    Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation

  14. No Access

    Book Chapter

    Pages 85-89

    Motor Development Skills of 1- to 4-Year-Old Iranian Children with Early Treated Phenylketonuria

  15. No Access

    Book Chapter

    Pages 91-98

    A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities

  16. No Access

    Book Chapter

    Pages 99-102

    Successful Desensitisation in a Patient with CRIM-Positive Infantile-Onset Pompe Disease

  17. No Access

    Book Chapter

    Pages 103-107

    Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability

  18. No Access

    Book Chapter

    Pages 109-114

    Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation

  19. No Access

    Book Chapter

    Pages 115-120

    No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome–Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3

  20. No Access

    Book Chapter

    Pages 121-127

    Novel Association of Early Onset Hepatocellular Carcinoma with Transaldolase Deficiency

  21. No Access

    Book Chapter

    Pages 129-134

    Lathosterolosis: A Disorder of Cholesterol Biosynthesis Resembling Smith-Lemli-Opitz Syndrome