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JIMD Reports, Volume 40

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Cover of 'JIMD Reports, Volume 40'

Table of Contents

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    Book Overview
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    Chapter 53 ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation
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    Chapter 54 Natural History of Aromatic l -Amino Acid Decarboxylase Deficiency in Taiwan
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    Chapter 55 Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female.
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    Chapter 56 Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion
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    Chapter 57 Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers
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    Chapter 58 Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency
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    Chapter 59 Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features
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    Chapter 60 The Use of d2 and Benton Tests for Assessment of Attention Deficits and Visual Memory in Teenagers with Phenylketonuria
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    Chapter 61 Hyperphenylalaninaemias in Estonia: Genotype–Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening
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    Chapter 62 Asymptomatic Corneal Keratopathy Secondary to Hypertyrosinaemia Following Low Dose Nitisinone and a Literature Review of Tyrosine Keratopathy in Alkaptonuria
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    Chapter 63 Extended Experience of Lower Dose Sapropterin in Irish Adults with Mild Phenylketonuria
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    Chapter 65 Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet
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    Chapter 66 Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood
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    Chapter 68 Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation
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    Chapter 69 Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBC
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Title
JIMD Reports, Volume 40
Published by
Springer Berlin Heidelberg, October 2018
DOI 10.1007/978-3-662-57880-3
ISBNs
978-3-66-257879-7, 978-3-66-257880-3
Editors

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

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