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JIMD Reports, Volume 31

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Cover of 'JIMD Reports, Volume 31'

Table of Contents

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    Book Overview
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    Chapter 543 Glycine N -Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?
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    Chapter 544 Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders
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    Chapter 545 Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents
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    Chapter 546 Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency
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    Chapter 548 Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders
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    Chapter 549 Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease
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    Chapter 550 Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients
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    Chapter 551 Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency
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    Chapter 552 Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency
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    Chapter 554 Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots
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    Chapter 555 N -Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels
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    Chapter 557 Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes
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    Chapter 558 Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency
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    Chapter 563 Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report
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    Chapter 565 Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency
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    Chapter 577 Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency
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Title
JIMD Reports, Volume 31
Published by
Springer Berlin Heidelberg, January 2017
DOI 10.1007/978-3-662-54119-7
ISBNs
978-3-66-254118-0, 978-3-66-254119-7
Editors

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

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