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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).
Attention for 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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Chapter title
Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).
Chapter number 588
Book title
JIMD Reports, Volume 33
Published in
JIMD Reports, January 2017
DOI 10.1007/8904_2017_588
Pubmed ID
29076057
Book ISBNs
978-3-66-255011-3, 978-3-66-255012-0
Authors

Morava, Eva, Baumgartner, Matthias, Patterson, Marc, Rahman, Shamima, Zschocke, Johannes, Peters, Verena, Shanti Balasubramaniam, B. Lewis, D. M. Mock, H. M. Said, M. Tarailo-Graovac, A. Mattman, C. D. van Karnebeek, D. R. Thorburn, R. J. Rodenburg, J. Christodoulou, Balasubramaniam, Shanti, Lewis, B., Mock, D. M., Said, H. M., Tarailo-Graovac, M., Mattman, A., van Karnebeek, C. D., Thorburn, D. R., Rodenburg, R. J., Christodoulou, J.

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Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 28 October 2017.
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#20,451,228
of 23,007,053 outputs
Outputs from JIMD Reports
#496
of 556 outputs
Outputs of similar age
#356,176
of 421,244 outputs
Outputs of similar age from JIMD Reports
#17
of 24 outputs
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