Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. [electronic resource]
- Genetics in medicine : official journal of the American College of Medical Genetics 10 2017
Publication Type: Guideline; Journal Article; Research Support, Non-U.S. Gov't
1530-0366
10.1038/gim.2017.84 doi
Biotinidase--metabolism Biotinidase Deficiency--diagnosis Clinical Laboratory Techniques Female Genetic Testing--standards Genetics, Medical--methods Genomics--standards Humans Infant, Newborn Male Neonatal Screening United States