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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.
Attention for Chapter 212: The Management of Pregnancy in Maple Syrup Urine Disease: Experience with Two Patients
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Chapter title
The Management of Pregnancy in Maple Syrup Urine Disease: Experience with Two Patients
Chapter number 212
Book title
JIMD Reports - Volume 10
Published in
JIMD Reports, February 2013
DOI 10.1007/8904_2013_212
Pubmed ID
Book ISBNs
978-3-64-237333-6, 978-3-64-237334-3
Authors

Michel Tchan, M. Westbrook, G. Wilcox, R. Cutler, N. Smith, R. Penman, B. J. G. Strauss, B. Wilcken

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 23 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 4%
Australia 1 4%
Unknown 21 91%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 4 17%
Researcher 4 17%
Student > Postgraduate 3 13%
Student > Master 3 13%
Student > Ph. D. Student 3 13%
Other 5 22%
Unknown 1 4%
Readers by discipline Count As %
Medicine and Dentistry 12 52%
Agricultural and Biological Sciences 4 17%
Biochemistry, Genetics and Molecular Biology 2 9%
Unspecified 1 4%
Psychology 1 4%
Other 1 4%
Unknown 2 9%