Volume 11 2013

JIMD Reports - Volume 11

ISBN: 978-3-642-37327-5 (Print) 978-3-642-37328-2 (Online)

Table of contents (22 chapters)

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  1. Front Matter

    Pages i-vii

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    Pages 1-6

    Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment

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    Pages 7-11

    Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency

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    Pages 13-16

    A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing

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    Pages 17-24

    Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures

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    Pages 25-30

    Liver Transplantation Prevents Progressive Neurological Impairment in Argininemia

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    Pages 31-41

    Motor and Speech Disorders in Classic Galactosemia

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    Pages 43-47

    Defect of Cobalamin Intracellular Metabolism Presenting as Diabetic Ketoacidosis: A Rare Manifestation

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    Pages 49-52

    Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis

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    Pages 53-64

    Early Cardiac Changes in Children with Anderson–Fabry Disease

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    Pages 65-72

    Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)

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    Pages 73-78

    Outcome of Perinatal Hypophosphatasia in Manitoba Mennonites: A Retrospective Cohort Analysis

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    Pages 79-85

    Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type

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    Pages 87-92

    Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate

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    Pages 93-97

    A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus

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    Pages 99-106

    A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome

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    Pages 107-116

    Selective Screening for Lysosomal Storage Diseases with Dried Blood Spots Collected on Filter Paper in 4,700 High-Risk Colombian Subjects

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    Pages 117-123

    Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases

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    Pages 125-132

    Spondyloepiphyseal Dysplasias and Bilateral Legg-Calvé-Perthes Disease: Diagnostic Considerations for Mucopolysaccharidoses

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    Pages 133-137

    Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect

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    Pages 139-148

    Socio-emotional Problems in Children with CDG

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