First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel HSD17B4 Mutations and Progressive Neuropathy in Korea-Reference-Cited by-同舟云学术

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First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel HSD17B4 Mutations and Progressive Neuropathy in Korea

Published:2020 Issue:39 Volume:35 Page:
ISSN:1011-8934
Container-title:Journal of Korean Medical Science
language:en
Short-container-title:J Korean Med Sci

Author:

Bae Eun Young¹^ORCID,Yi Yoonyoung¹²^ORCID,Lim Han Hyuk¹^ORCID,Lee Jiwon M.¹^ORCID,Lee Bongjin¹³^ORCID,Kim Seung Yeon⁴^ORCID,Kim Yoo-Mi¹⁵^ORCID

Affiliation:

1. Department of Pediatrics, Chungnam National University College of Medicine, Chungnam National University Hospital, Daejeon, Korea.

2. Department of Pediatrics, College of Medicine, Hallym University, Kangdong Sacred Heart Hospital, Seoul, Korea.

3. Department of Emergency Medicine, Seoul National University Hospital, Seoul, Korea.

4. Department of Pediatrics, Daejeon Eulgi Medical Center, Eulji University, Daejeon, Korea.

5. Department of Pediatrics, Chungnam National University College of Medicine, Chungnam National University Sejong Hospital, Sejong, Korea.

Publisher

Korean Academy of Medical Sciences

Subject

General Medicine

Link

https://jkms.org/pdf/10.3346/jkms.2020.35.e357

Cited by 9 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. Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report;Molecular Genetics and Metabolism Reports;2024-12

2. Overview of Neuro-Ophthalmic Findings in Leukodystrophies;Journal of Clinical Medicine;2024-08-28

3. D-Bifunctional Protein Deficiency Diagnosis—A Challenge in Low Resource Settings: Case Report and Review of the Literature;International Journal of Molecular Sciences;2024-04-30

4. DHA Shortage Causes the Early Degeneration of Photoreceptors and RPE in Mice With Peroxisomal β-Oxidation Deficiency;Investigative Opthalmology & Visual Science;2023-11-07

5. DHA shortage causes the early degeneration of photoreceptors and RPE in mice with peroxisomal β-oxidation deficiency;2023-08-10

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