Book Volume 9 2013

JIMD Reports - Case and Research Reports, 2012/6

ISBN: 978-3-642-35517-2 (Print) 978-3-642-35518-9 (Online)

Table of contents (21 chapters)

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  1. Front Matter

    Pages i-vi

  2. Chapter

    Pages 1-5

    Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency

  3. Chapter

    Pages 7-16

    Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease

  4. Chapter

    Pages 17-29

    Prevalence and Development of Orthopaedic Symptoms in the Dutch Hurler Patient Population after Haematopoietic Stem Cell Transplantation

  5. Chapter

    Pages 31-40

    Nutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH4)

  6. Chapter

    Pages 41-48

    Effects of Switching from Agalsidase Beta to Agalsidase Alfa in 10 Patients with Anderson-Fabry Disease

  7. Chapter

    Pages 49-58

    Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S

  8. Chapter

    Pages 59-65

    Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients

  9. Chapter

    Pages 67-71

    Ceftriaxone for Alexander’s Disease: A Four-Year Follow-Up

  10. Chapter

    Pages 73-80

    Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2

  11. Chapter

    Pages 81-84

    The Mild Form of Menkes Disease: A 34 Year Progress Report on the Original Case

  12. Chapter

    Pages 85-91

    Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene

  13. Chapter

    Pages 93-96

    A Young Adult with Sarcosinemia. No Benefit from Long Duration Treatment with Memantine

  14. Chapter

    Pages 97-104

    Amino Acid Profiles in Patients with Urea Cycle Disorders at Admission to Hospital due to Metabolic Decompensation

  15. Chapter

    Pages 105-111

    Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNASer(UCN) and Review of Published Cases

  16. Chapter

    Pages 113-116

    Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy

  17. Chapter

    Pages 117-120

    Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process

  18. Chapter

    Pages 121-124

    Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS)

  19. Chapter

    Pages 125-131

    Leptin Levels in Children and Adults with Classic Galactosaemia

  20. Chapter

    Pages 133-137

    CRIM-Negative Pompe Disease Patients with Satisfactory Clinical Outcomes on Enzyme Replacement Therapy

  21. Chapter

    Pages 139-142

    Partial Pyridoxine Responsiveness in PNPO Deficiency

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