A neonate with hyperornithinemia-hyperammonemiahomocitrullinuria syndrome from a consanguineous Pakistani family-Reference-Cited by-同舟云学术

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A neonate with hyperornithinemia-hyperammonemiahomocitrullinuria syndrome from a consanguineous Pakistani family

Published:2019-12-31 Issue:2 Volume:16 Page:85-89
ISSN:1226-1769
Container-title:Journal of Genetic Medicine
language:en
Short-container-title:J Genet Med

Author:

Kim Yoo-Mi¹^ORCID,Lim Han Hyuk¹^ORCID,Gang Mi Hyeon¹^ORCID,Lee Yong Wook¹^ORCID,Kim Sook Za¹^ORCID,Kim Gu-Hwan²^ORCID,Yoo Han-Wook²^ORCID,Ko Jung-Min³^ORCID,Chang Meayoung¹^ORCID

Affiliation:

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

2. Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea

3. Department of Pediatrics, Seoul National University Children's Hospital, College of Medicine, Seoul National University, Seoul, Korea

Publisher

Korean Society of Medical Genetics

Subject

General Medicine

Link

http://pdf.medrang.co.kr/JGM/2019/016/JGM016-02-08.pdf

Reference12 articles.

2. Hyperornithinemia, Hyperammonemia, and Homocitrullinuria

3. Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia

4. Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism

5. The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome

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