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JIMD Reports, Volume 36

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Cover of 'JIMD Reports, Volume 36'

Table of Contents

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    Book Overview
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    Chapter 1 Widespread Expression of a Membrane-Tethered Version of the Soluble Lysosomal Enzyme Palmitoyl Protein Thioesterase-1
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    Chapter 2 An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United Kingdom
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    Chapter 3 Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency
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    Chapter 5 Altered Cellular Homeostasis in Murine MPS I Fibroblasts: Evidence of Cell-Specific Physiopathology
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    Chapter 12 Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency
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    Chapter 30 Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?
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    Chapter 32 Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS
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    Chapter 33 Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C
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    Chapter 34 False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency
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    Chapter 35 Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach
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    Chapter 37 What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?
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    Chapter 38 Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1
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    Chapter 39 Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency
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    Chapter 40 A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica
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    Chapter 41 The Spectrum of Niemann-Pick Type C Disease in Greece
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Title
JIMD Reports, Volume 36
Published by
Springer Berlin Heidelberg, November 2017
DOI 10.1007/978-3-662-56138-6
ISBNs
978-3-66-256137-9, 978-3-66-256138-6
Editors

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

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