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JIMD Reports, Volume 37

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Cover of 'JIMD Reports, Volume 37'

Table of Contents

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    Book Overview
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    Chapter 4 Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis
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    Chapter 6 Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease
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    Chapter 7 Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
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    Chapter 8 Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency
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    Chapter 9 Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation
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    Chapter 10 Galactose Epimerase Deficiency: Expanding the Phenotype
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    Chapter 11 Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism
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    Chapter 13 Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency
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    Chapter 14 Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?
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    Chapter 15 Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy
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    Chapter 16 Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria
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    Chapter 17 The Impact of Fabry Disease on Reproductive Fitness
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    Chapter 20 Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria
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    Chapter 22 Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia
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    Chapter 23 Treatment Adherence and Psychological Wellbeing in Maternal Carers of Children with Phenylketonuria (PKU)
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Title
JIMD Reports, Volume 37
Published by
Springer Berlin Heidelberg, December 2017
DOI 10.1007/978-3-662-56359-5
ISBNs
978-3-66-256358-8, 978-3-66-256359-5
Editors

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

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