Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Miro Dumic"'
Publikováno v:
Molecular endocrinology (Baltimore, Md.). 5(5)
The mild nonclassic form of steroid 21-hydroxylase deficiency is one of the most common autosomal recessive disorders in humans, occurring in almost 1% of caucasians and about 3% of Ashkenazi Jews. Many patients with this disorder carry a Val-281----
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e6bfd9c6db00c629c83203917e74ae4
https://pubmed.ncbi.nlm.nih.gov/2072928
https://pubmed.ncbi.nlm.nih.gov/2072928
Autor:
Hossein Najmabadi, Jihad S. Obeid, Maryam Razzaghy Azar, Maria I. New, Robert C. Wilson, Saroj Nimkarn, Fatemeh SaVari, Miro Dumic
Publikováno v:
Molecular Genetics and Metabolism. 93:219
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::40bb626ba72b8efe31f444196ed78f45
https://doi.org/10.1016/j.ymgme.2006.12.013
https://doi.org/10.1016/j.ymgme.2006.12.013
Autor:
Kreso Lipovac, Ladislav Res, Zrnka Kalafatic, Zora Jezerinac, Dubravka Juretić, Miro Dumic, Biserka Zurga
Publikováno v:
Metabolism. 29:1013-1019
Two sisters with a rare inborn error of histidine metabolism resulting from urocanase deficiency are being presented. The more common form of familial histidinemia due to histidase deficiency is excluded. The urocanase deficiency is proven by demonst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8d270b84966535e162df549ce361c31
https://doi.org/10.1016/0026-0495(80)90209-7
https://doi.org/10.1016/0026-0495(80)90209-7