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pro vyhledávání: '"Hoang Bich Nga, Le"'
Autor:
Thi Chi Mai, Tran, Thi Ngoc Anh, Tran, Hoang Bich Nga, Le, Viet Hoa, Nguyen, Minh Dien, Tran, Chi Dung, Vu, Ronda F, Greaves
Publikováno v:
Clinical Chemistry and Laboratory Medicine (CCLM). 60:1225-1233
Objectives The 5α-reductase-type-2 deficiency (5ARD2) is a rare autosomal recessive 46,XY disorder of sex development caused by the mutated 5α-reductase type 2 (SRD5A2) gene. In this disease, defective conversion of testosterone to dihydrotestoster
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0c7a5a08aec4c38c78e79ed3e648720
https://doi.org/10.1515/cclm-2022-0272
https://doi.org/10.1515/cclm-2022-0272
Autor:
Le Anh Tuan Pham, Trong Tue Nguyen, Hoang Bich Nga Le, Dat Quoc Tran, Cam Tu Ho, Thinh Huy Tran, Van Thanh Ta, The Hung Bui, Van Khanh Tran
Publikováno v:
Journal of genetics. 96(6)
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. The gene responsible for WD was discovered in 1993 and is located on chromosome 13 at 13q14.3. It encodes a copper-specific transporting P-type ATPase. Early diagnosis can i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::868c8c20d6a78e8882d99138defc8e41
https://pubmed.ncbi.nlm.nih.gov/29321352
https://pubmed.ncbi.nlm.nih.gov/29321352
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