Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

BACKGROUND: Urea cycle disorders (UCDs) are inherited metabolic disorders that present with hyperammonemia, and cause significant mortality and morbidity in infants and children. These disorders are not well reported in the Indian population, due to lack of a thorough study of the clinical and molec...

詳細記述

保存先:
書誌詳細
出版年:Orphanet J Rare Dis
主要な著者: Bijarnia-Mahay, Sunita, Häberle, Johannes, Jalan, Anil B., Puri, Ratna Dua, Kohli, Sudha, Kudalkar, Ketki, Rüfenacht, Véronique, Gupta, Deepti, Maurya, Deepshikha, Verma, Jyotsna, Shigematsu, Yosuke, Yamaguchi, Seiji, Saxena, Renu, Verma, Ishwar C.
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2018
主題:
Research
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6167905/
https://ncbi.nlm.nih.gov/pubmed/30285816
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0908-1
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