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JIMD Reports - Volume 10

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Cover of 'JIMD Reports - Volume 10'

Table of Contents

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    Book Overview
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    Chapter 182 Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates
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    Chapter 193 Chitotriosidase Deficiency: A Mutation Update in an African Population
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    Chapter 195 NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome.
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    Chapter 196 Accuracy of Six Anthropometric Skinfold Formulas Versus Air Displacement Plethysmography for Estimating Percent Body Fat in Female Adolescents with Phenylketonuria
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    Chapter 197 Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease
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    Chapter 198 Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency.
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    Chapter 199 MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation
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    Chapter 200 Differential Phonological Awareness Skills in Children with Classic Galactosemia: A Descriptive Study of Four Cases
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    Chapter 202 Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report
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    Chapter 203 Stem Cell Transplantation for Adult-Onset Krabbe Disease: Report of a Case
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    Chapter 204 Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population
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    Chapter 205 Simple, Fast, and Simultaneous Detection of Plasma Total Homocysteine, Methylmalonic Acid, Methionine, and 2-Methylcitric Acid Using Liquid Chromatography and Mass Spectrometry (LC/MS/MS).
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    Chapter 206 An Exceptional Family with Three Consecutive Generations Affected by Wilson Disease
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    Chapter 207 Sight-Threatening Phenylketonuric Encephalopathy in a Young Adult, Reversed by Diet
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    Chapter 208 Cardiac Ultrasound Findings in Infants with Severe (Hurler Phenotype) Untreated Mucopolysaccharidosis (MPS) Type I
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    Chapter 209 A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein
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    Chapter 210 Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy
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    Chapter 211 Pyruvate Dehydrogenase-E1α Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation
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    Chapter 212 The Management of Pregnancy in Maple Syrup Urine Disease: Experience with Two Patients
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    Chapter 213 Fatal and unanticipated cardiorespiratory disease in a two-year-old child with hurler syndrome following successful stem cell transplant.
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Title
JIMD Reports - Volume 10
Published by
Springer Berlin Heidelberg, March 2013
DOI 10.1007/978-3-642-37334-3
ISBNs
978-3-64-237333-6, 978-3-64-237334-3
Editors

Zschocke, Johannes, Gibson, K Michael, Brown, Garry, Morava, Eva, Peters, Verena

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