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JIMD Reports, Volume 43

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Cover of 'JIMD Reports, Volume 43'

Table of Contents

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    Book Overview
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    Chapter 92 Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study
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    Chapter 93 Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation
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    Chapter 94 Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment
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    Chapter 95 Serial Magnetic Resonance Imaging and 1 H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report
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    Chapter 96 Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice
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    Chapter 97 Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase Deficiency
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    Chapter 99 Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period
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    Chapter 100 Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations
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    Chapter 101 Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I
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    Chapter 107 A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients
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    Chapter 108 Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion
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    Chapter 110 Evaluation of Disease Lesions in the Developing Canine MPS IIIA Brain
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    Chapter 111 Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency
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    Chapter 112 RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants
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    Chapter 113 Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis)
Attention for Chapter 99: Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period
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Chapter title
Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period
Chapter number 99
Book title
JIMD Reports, Volume 43
Published in
2019, January 2018
DOI 10.1007/8904_2018_99
Pubmed ID
Book ISBNs
978-3-66-258613-6, 978-3-66-258614-3
Authors

Teruo Miyazaki, Hironori Nagasaka, Haruki Komatsu, Ayano Inui, Ichiro Morioka, Hirokazu Tsukahara, Shunsaku Kaji, Satoshi Hirayama, Takashi Miida, Hiroki Kondou, Kenji Ihara, Mariko Yagi, Zenro Kizaki, Kazuhiko Bessho, Takahiro Kodama, Kazumoto Iijima, Tohru Yorifuji, Yasushi Matsuzaki, Akira Honda, Miyazaki, Teruo, Nagasaka, Hironori, Komatsu, Haruki, Inui, Ayano, Morioka, Ichiro, Tsukahara, Hirokazu, Kaji, Shunsaku, Hirayama, Satoshi, Miida, Takashi, Kondou, Hiroki, Ihara, Kenji, Yagi, Mariko, Kizaki, Zenro, Bessho, Kazuhiko, Kodama, Takahiro, Iijima, Kazumoto, Yorifuji, Tohru, Matsuzaki, Yasushi, Honda, Akira

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Mendeley readers

The data shown below were compiled from readership statistics for 16 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 16 100%

Demographic breakdown

Readers by professional status Count As %
Professor 3 19%
Researcher 3 19%
Professor > Associate Professor 2 13%
Student > Master 2 13%
Other 1 6%
Other 2 13%
Unknown 3 19%
Readers by discipline Count As %
Medicine and Dentistry 7 44%
Biochemistry, Genetics and Molecular Biology 2 13%
Neuroscience 1 6%
Unknown 6 38%