Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin

Molecular Genetics and Metabolism - Tập 110 - Trang 111-115 - 2013
Sandra C. Van Calcar1,2, Mei W. Baker2,3,4, Phillip Williams3, Susan A. Jones3, Blia Xiong1, Mai Choua Thao1, Sheng Lee1, Mai Khou Yang1, Greg M. Rice1,2,3, William Rhead5, Jerry Vockley6, Gary Hoffman4, Maureen S. Durkin1,7
1Biochemical Genetics Program, Waisman Center, University of Wisconsin–Madison, Madison, WI, USA
2Department of Pediatrics University of Wisconsin School of Medicine and Public Health Madison WI USA
3Biochemical Genetics Laboratory, Wisconsin State Laboratory of Hygiene, University of Wisconsin–Madison, Madison, WI, USA
4Newborn Screening Program, Wisconsin State Laboratory of Hygiene, University of Wisconsin–Madison, Madison, WI, USA
5Genetics Clinic, Children's Hospital of Wisconsin, Medical College of Wisconsin, Milwaukee, WI, USA
6Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
7Department of Population Health Sciences, University of Wisconsin School of Medicine and Public Health, Madison WI, USA

Tài liệu tham khảo

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