Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online.

K. J. Norrgard*, R. J. Pomponio, K. L. Swango, J. Hymes, T. Reynolds, G. A. Buck, B. Wolf

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

37 Scopus citations

Fingerprint

Dive into the research topics of 'Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online.'. Together they form a unique fingerprint.

Medicine & Life Sciences