Table of contents (20 chapters)

1. Front Matter

   Pages i-vi

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2. Book Chapter

   Pages 1-5

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

   • Elsebet Ostergaard,
   • Morten Duno
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3. Book Chapter

   Pages 7-16

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

   • Marina Siebert,
   • Hugo Bock
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4. Book Chapter

   Pages 17-29

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

   • F. J. Stoop,
   • M. C. Kruyt
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5. Book Chapter

   Pages 31-40

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

   • A. G. Thiele,
   • J. F. Weigel,
   • B. Ziesch
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6. Book Chapter

   Pages 41-48

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

   • A. Pisani,
   • L. Spinelli,
   • B. Visciano
   • … show all 8 hide
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7. Book Chapter

   Pages 49-58

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

   • Maja Djordjevic,
   • Kristel Klaassen
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8. Book Chapter

   Pages 59-65

   Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients

   • Riffat Aslam,
   • Annelotte C. M. van Bommel
   • … show all 4 hide
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9. Book Chapter

   Pages 67-71

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

   • GianPietro Sechi,
   • Isabella Ceccherini
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10. Book Chapter

    Pages 73-80

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

    • N. Ramanathan,
    • M. Ahmed,
    • E. Raffan
    • … show all 8 hide
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11. Book Chapter

    Pages 81-84

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

    • M. C. Tchan,
    • B. Wilcken,
    • J. Christodoulou
    • … show all 3 hide
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12. Book 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

    • Talita E R Adelino,
    • Gustavo G Martins
    • … show all 12 hide
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13. Book Chapter

    Pages 93-96

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

    • A. Benarrosh,
    • R. Garnotel,
    • A. Henry
    • … show all 7 hide
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14. Book Chapter

    Pages 97-104

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

    • S. Rodney,
    • A. Boneh
    • … show all 2 hide
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15. Book Chapter

    Pages 105-111

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

    • Katalin Komlósi,
    • Anita Maász,
    • Péter Kisfali
    • … show all 10 hide
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16. Book Chapter

    Pages 113-116

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

    • Gerarda Cappuccio,
    • Nicola Brunetti-Pierri
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17. Book Chapter

    Pages 117-120

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

    • E. J. Langereis,
    • I. E. T. van den Berg
    • … show all 7 hide
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18. Book Chapter

    Pages 121-124

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

    • Allison Jay,
    • Mary Seeterlin,
    • Eleanor Stanley
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19. Book Chapter

    Pages 125-131

    Leptin Levels in Children and Adults with Classic Galactosaemia

    • Ina Knerr,
    • Karen P. Coss,
    • Peter P. Doran
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20. Book Chapter

    Pages 133-137

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

    • Hamoud H. Al Khallaf,
    • Jennifer Propst
    • … show all 5 hide
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21. Book Chapter

    Pages 139-142

    Partial Pyridoxine Responsiveness in PNPO Deficiency

    • Phillip L. Pearl,
    • Keith Hyland,
    • J Chiles
    • … show all 6 hide
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