The Story of Biotinidase Deficiency and Its Introduction into Newborn Screening: The Role of Serendipity-Reference-Cited by-同舟云学术

The Story of Biotinidase Deficiency and Its Introduction into Newborn Screening: The Role of Serendipity

Published:2015-03-05 Issue:1 Volume:1 Page:3-12
ISSN:2409-515X
Container-title:International Journal of Neonatal Screening
language:en
Short-container-title:IJNS

Author:

Wolf Barry

Publisher

MDPI AG

Subject

Obstetrics and Gynecology,Immunology and Microbiology (miscellaneous),Pediatrics, Perinatology and Child Health

Link

http://www.mdpi.com/2409-515X/1/1/3/pdf

Reference43 articles.

1. The biotin-dependent carboxylase deficiencies;Wolf;Am. J. Hum. Genet.,1982

2. Disorders of Biotin Metabolism;Wolf,2001

3. Multiple carboxylase deficiency: Clinical and biochemical improvement following neonatal biotin treatment;Wolf;Pediatrics,1981

4. Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.

5. Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency;Saunders;Am. J. Hum. Genet.,1982

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