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JIMD Reports, Volume 19

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Cover of 'JIMD Reports, Volume 19'

Table of Contents

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    Book Overview
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    Chapter 349 A De Novo Variant in Galactose-1-P Uridylyltransferase ( GALT ) Leading to Classic Galactosemia
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    Chapter 355 Refsum Disease Presenting with a Late-Onset Leukodystrophy
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    Chapter 356 Making the White Matter Matters: Progress in Understanding Canavan's Disease and Therapeutic Interventions Through Eight Decades.
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    Chapter 359 Disordered Eating and Body Esteem Among Individuals with Glycogen Storage Disease
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    Chapter 361 One Year Experience of Pheburane ® (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency
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    Chapter 362 Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature
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    Chapter 363 Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1
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    Chapter 364 Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3 : Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis
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    Chapter 366 Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening
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    Chapter 370 Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study
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    Chapter 374 Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.
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    Chapter 375 JIMD Reports, Volume 19
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    Chapter 376 Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome
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    Chapter 378 Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria.
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    Chapter 379 A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly.
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    Chapter 433 Erratum to: Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature
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