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JIMD Reports, Volume 33

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Cover of 'JIMD Reports, Volume 33'

Table of Contents

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    Book Overview
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    Chapter 528 Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency
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    Chapter 535 Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II
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    Chapter 559 Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)
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    Chapter 569 The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency
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    Chapter 573 Difficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic Disease and Their Parents in Japan: A Literature Review
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    Chapter 575 Gastrointestinal Health in Classic Galactosemia
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    Chapter 576 Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease
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    Chapter 578 Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses
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    Chapter 579 Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria
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    Chapter 580 Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency
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    Chapter 581 Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features
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    Chapter 582 Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling
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    Chapter 583 Peak Jump Power Reflects the Degree of Ambulatory Ability in Patients with Mitochondrial and Other Rare Diseases
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    Chapter 584 RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?
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    Chapter 587 Erratum: Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency
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    Chapter 588 Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).
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Title
JIMD Reports, Volume 33
Published by
Springer Berlin Heidelberg, May 2017
DOI 10.1007/978-3-662-55012-0
ISBNs
978-3-66-255011-3, 978-3-66-255012-0
Editors

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

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