Potential pitfall of prenatal enzymatic diagnosis of carbamoyl-phosphate synthetase I deficiency

Autor:	Y. Mizushima, Michiaki Yakushiji, T. Inoue, Hirohisa Kato, Atsushi Nishiyori, Yasutoshi Koga, Makoto Yoshino, H. Maeshiro, S. Izumi, T. Hatase
Rok vydání:	1997
Předmět:	chemistry.chemical_classification Adult Carbamoyl-Phosphate Synthase (Ammonia) medicine.disease Enzyme chemistry Biochemistry Carbamoyl phosphate synthetase I deficiency Prenatal Diagnosis Genetics medicine Humans Female Genetics (clinical)
Zdroj:	Journal of inherited metabolic disease. 20(5)
ISSN:	0141-8955
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd8f1c0313033c5d2ab437606a8459c9 https://pubmed.ncbi.nlm.nih.gov/9323570 Zobrazit plný text záznamu Full text from SpringerLink Plný text