Výsledky vyhledávání - "Shawn M. Moloney"

A cautionary tale of pyridoxine toxicity in cystathionine beta‐synthase deficiency detected by two‐tier newborn screening highlights the need for clear pyridoxine dosing guidelines

Autor: Anthony J Scott, Elizabeth G. Ames, Robert L. Conway, Ayesha Ahmad, Kara B. Pappas, Shawn M. Moloney

Publikováno v: American Journal of Medical Genetics Part A. 182:2704-2708

Classic homocystinuria is due to deficiency of cystathionine beta-synthase (CBS), a pyridoxine-dependent enzyme that, depending on the molecular variants, may be co-factor responsive. Elevated methionine is often used as the primary analyte to detect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ab1a73a449026f70b42067d1282a89e6
https://doi.org/10.1002/ajmg.a.61815

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