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Int. J. Neonatal Screen. 2015, 1(1), 3-12; doi:10.3390/ijns1010003

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

Department of Research Administration, Henry Ford Hospital, Detroit, MI 48202, USA
Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA
Academic Editor: Ralph Fingerhut
Received: 11 February 2015 / Revised: 25 February 2015 / Accepted: 27 February 2015 / Published: 5 March 2015
View Full-Text   |   Download PDF [188 KB, uploaded 5 March 2015]


Today, all of the states in the United States and many countries screen their newborns for biotinidase deficiency. Biotinidase deficiency meets the major criteria for including a disorder into screening programs. However, rarely do we learn the actual story behind the discovery of a disorder where the underlying etiology was elusive or about the events leading to a disorder’s incorporation into a newborn screening program. This is the story of the role that serendipity played in the story of biotinidase deficiency and the newborn screening of the disorder. View Full-Text
Keywords: biotinidase deficiency; biotinidase; newborn screening; screening biotinidase deficiency; biotinidase; newborn screening; screening
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Wolf, B. The Story of Biotinidase Deficiency and Its Introduction into Newborn Screening: The Role of Serendipity. Int. J. Neonatal Screen. 2015, 1, 3-12.

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Int. J. Neonatal Screen. EISSN 2409-515X Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
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