<scp> <i>KARS</i> </scp> ‐related diseases with macrothrombocytes and pulmonary arterial hypertension-Reference-Cited by-同舟云学术

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KARS ‐related diseases with macrothrombocytes and pulmonary arterial hypertension

Published:2023-01 Issue:1 Volume:65 Page:
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:Pediatrics International

Author:

Wada Mako Kimura¹,Fukuhara Yasuyuki²^ORCID,Hayakawa Itaru³,Kaname Tadashi⁴^ORCID,Ishiguro Akira¹⁵

Affiliation:

1. Center for Postgraduate Education and Training National Center for Child Health and Development (NCCHD) Tokyo Japan

2. Division of Clinical Genetics and Molecular Medicine National Center for Child Health and Development (NCCHD) Tokyo Japan

3. Division of Neurology National Center for Child Health and Development (NCCHD) Tokyo Japan

4. Department of Genome Medicine National Center for Child Health and Development (NCCHD) Tokyo Japan

5. Division of Hematology National Center for Child Health and Development (NCCHD) Tokyo Japan

Funder

National Center for Child Health and Development

Publisher

Wiley

Subject

Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ped.15428

Reference5 articles.

1. Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

2. Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy

3. Ketogenic diet for KARS‐related mitochondrial dysfunction and progressive leukodystrophy;Murofushi Y;Neuropediatrics,2021

4. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

5. Mitochondrial dysfunction and pulmonary hypertension: cause, effect, or both

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Antibody Deficiency in Patients with Biallelic KARS1 Mutations;Journal of Clinical Immunology;2023-09-28

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