Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.

Strovel, Erin T

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