High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota

Summary Newborns identified with profound biotinidase deficiency (BTD) by the Minnesota Newborn Screening Program (MN NBS) between 1 October 2004 and 30 May 2008 were all from new immigrant groups. Thirty-three positive cases of BTD were identified out of 264 727 infants screened by the Wolf colorim...

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Veröffentlicht in:	Journal of inherited metabolic disease 2009-12, Vol.32 (Suppl 1), p.169-173
Hauptverfasser:	Sarafoglou, K., Bentler, K., Gaviglio, A., Redlinger-Grosse, K., Anderson, C., McCann, M., Bloom, B., Babovic-Vuksanovic, D., Gavrilov, D., Berry, S. A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biochemistry Biotinidase - genetics Biotinidase Deficiency - enzymology Biotinidase Deficiency - epidemiology Biotinidase Deficiency - genetics Female Genetic Carrier Screening Homozygote Human Genetics Humans Incidence Infant, Newborn Internal Medicine Male Medicine Medicine & Public Health Metabolic Diseases Minnesota - epidemiology Mutation Neonatal Screening Online Report Pediatrics Somalia - ethnology
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