Mutation (Q456H) Is the Most Common Cause of Profound Biotinidase Deficiency in Children Ascertained by Newborn Screening in the United States

Biochemical and Molecular Medicine - Tập 61 - Trang 22-27 - 1997
Karen J. Norrgard1, Robert J. Pomponio1, Katie L. Swango1, Jeanne Hymes1, Thomas R. Reynolds2, Gregory A. Buck2, Barry Wolf1,3,4
1Department of Human Genetics, Medical College of Virginia/Virginia Commonwealth University, Richmond, Virginia, 23298
2Department of Microbiology and Immunology, Medical College of Virginia/Virginia Commonwealth University, Richmond, Virginia, 23298
3Department of Pediatrics, Medical College of Virginia/Virginia Commonwealth University, Richmond, Virginia, 23298
4Department of Biochemistry and Molecular Biophysics, Medical College of Virginia, Virginia Commonwealth University, Richmond, Virginia, 23298

Tài liệu tham khảo

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