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JIMD Reports, Volume 38

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Cover of 'JIMD Reports, Volume 38'

Table of Contents

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    Book Overview
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    Chapter 19 First Successful Conception Induced by a Male Cystinosis Patient
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    Chapter 21 Treatment of Depression in Adults with Fabry Disease
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    Chapter 24 Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolism
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    Chapter 25 Mutations in GMPPB Presenting with Pseudometabolic Myopathy
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    Chapter 26 Glutaric Acidemia Type 1: A Case of Infantile Stroke.
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    Chapter 27 Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations
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    Chapter 28 Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry
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    Chapter 29 Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1
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    Chapter 30 Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency
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    Chapter 31 GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A
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    Chapter 32 Effect of Lorenzo’s Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in abcd1- Deficient Mice
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    Chapter 33 Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening
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    Chapter 34 A Rapid Two-Step Iduronate-2-Sulfatatse Enzymatic Activity Assay for MPSII Pharmacokinetic Assessment
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    Chapter 35 An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia
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    Chapter 37 Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency
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Title
JIMD Reports, Volume 38
Published by
Springer Berlin Heidelberg, April 2018
DOI 10.1007/978-3-662-56610-7
ISBNs
978-3-66-256609-1, 978-3-66-256610-7
Editors

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

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