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JIMD Reports, Volume 35

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Cover of 'JIMD Reports, Volume 35'

Table of Contents

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    Book Overview
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    Chapter 16 Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability
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    Chapter 17 Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants
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    Chapter 18 Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children’s Hospital
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    Chapter 18 Erratum to: White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother
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    Chapter 19 Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch–Nyhan Disease: A Case Report and Review of the Literature
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    Chapter 20 Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient
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    Chapter 21 Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine
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    Chapter 22 Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts
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    Chapter 23 Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?
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    Chapter 24 Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience
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    Chapter 25 The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening
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    Chapter 26 Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency
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    Chapter 27 Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in Alkaptonuria
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    Chapter 28 Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis
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    Chapter 29 Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR Mutation
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    Chapter 31 Cognitive Development in a Young Child with Mucolipidosis Type IV: A Case Report
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    Chapter 36 White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother
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Title
JIMD Reports, Volume 35
Published by
Springer Berlin Heidelberg, September 2017
DOI 10.1007/978-3-662-55833-1
ISBNs
978-3-66-255832-4, 978-3-66-255833-1
Editors

Morava, Eva, Baumgartner, Matthias, Patterson, Marc, Rahman, Shamima, Zschocke, Johannes, Peters, Verena

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