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JIMD Reports, Volume 44

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Cover of 'JIMD Reports, Volume 44'

Table of Contents

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    Book Overview
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    Chapter 114 The Second Case of Saposin A Deficiency and Altered Autophagy
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    Chapter 115 A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy
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    Chapter 116 Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency
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    Chapter 117 Sialuria: Ninth Patient Described Has a Novel Mutation in GNE
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    Chapter 118 Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy
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    Chapter 119 Psychosocial Functioning in Parents of MPS III Patients
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    Chapter 121 An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study
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    Chapter 125 Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients
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    Chapter 126 Cobalamin D Deficiency Identified Through Newborn Screening
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    Chapter 127 Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties
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    Chapter 128 DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients
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    Chapter 129 Enzyme Replacement Therapy During Pregnancy in Fabry Patients
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    Chapter 132 Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia
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    Chapter 133 Screening for Niemann-Pick Type C Disease in a Memory Clinic Cohort
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    Chapter 135 Reversible Cerebral White Matter Abnormalities in Homocystinuria
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JIMD Reports, Volume 44
Published by
Springer Berlin Heidelberg, May 2019
DOI 10.1007/978-3-662-58617-4
978-3-66-258616-7, 978-3-66-258617-4

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

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