Co-occurrence of both maternally inherited neurofibromatosis type 1 and Lesch-Nyhan disease in a child with severe neurodevelopmental impairment-Reference-Cited by-同舟云学术

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Co-occurrence of both maternally inherited neurofibromatosis type 1 and Lesch-Nyhan disease in a child with severe neurodevelopmental impairment

Published:2022-12-31 Issue:2 Volume:19 Page:94-99
ISSN:1226-1769
Container-title:Journal of Genetic Medicine
language:en
Short-container-title:J Genet Med

Author:

Yun Jae Hun¹^ORCID,Hong Yong Hee¹^ORCID,Seo Go Hun²^ORCID,Shin Young-Lim¹^ORCID

Affiliation:

1. Department of Pediatrics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea

2. 3billion Inc., Seoul, Korea

Publisher

Korean Society of Medical Genetics

Subject

General Medicine

Link

http://pdf.medrang.co.kr/JGM/2022/019/jgm-19-2-94.pdf

Reference19 articles.

1. Hereditary Choreoathetosis, Self-Mutilation and Hyperuricemia in Young Males

2. A familial disorder of uric acid metabolism and central nervous system function

3. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

4. Cognitive abilities of patients with Lesch-Nyhan disease

5. Self-injury in Lesch-Nyhan disease

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