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JIMD Reports, Volume 34

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Cover of 'JIMD Reports, Volume 34'

Table of Contents

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    Book Overview
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    Chapter 1 Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs
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    Chapter 2 Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen
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    Chapter 3 Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype
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    Chapter 4 The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965–2014
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    Chapter 5 Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review
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    Chapter 6 Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients
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    Chapter 7 DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion
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    Chapter 8 Delayed Infusion Reactions to Enzyme Replacement Therapies
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    Chapter 9 Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency
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    Chapter 10 Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder
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    Chapter 11 Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria
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    Chapter 12 Table of Phenylalanine Content of Foods: Comparative Analysis of Data Compiled in Food Composition Tables
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    Chapter 13 COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis
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    Chapter 14 Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency
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    Chapter 15 Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intolerance
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Title
JIMD Reports, Volume 34
Published by
Springer Berlin Heidelberg, July 2017
DOI 10.1007/978-3-662-55586-6
ISBNs
978-3-66-255585-9, 978-3-66-255586-6
Editors

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

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