Next Article in Journal
The Newborn Screening Quality Assurance Program at the Centers for Disease Control and Prevention: Thirty-Five Year Experience Assuring Newborn Screening Laboratory Quality
Previous Article in Journal
Welcome to the International Journal of Neonatal Screening
Article Menu

Export Article

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

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

1
Department of Research Administration, Henry Ford Hospital, Detroit, MI 48202, USA
2
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
Full-Text   |   PDF [188 KB, uploaded 5 March 2015]

Abstract

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).
SciFeed

Share & Cite This Article

MDPI and ACS Style

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.

Show more citation formats Show less citations formats

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Int. J. Neonatal Screen. EISSN 2409-515X Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top