Partial biotinidase deficiency' Clinical and biochemical features Juiie R. Secor McVoy, BS, Harvey L. Levy, MD, Michael Lawler, BA, M!chael A. Schmidt, MD, PhD, Douglas D. Ebers, MD, P. Suzanne Hart, BS, Denise Dove Pettit, BS, Miriam G. Blitzer, PhD, a n d Barry Wolf, MD, PhD From the Departments of Human Genetics and Pediatrics, Medical College oi Virginia, Richmond; the State Laboratory Institute, Massachusetts Department of Public Health; Massachusetts General Hospital, Harvard Medical School~ Boston; the Lincoln Cliriic and the Lincoln Pediatric Group, Lincoln, Nebraska; and the Division of Human Genetics, University of Maryland School of Medicine, Baltimore Neonatal screening f o r profound biotinidase deficiency (

Partial biotinidase deficiency: clinical and biochemical features.

Neonatal screening for profound biotinidase deficiency (less than 10% of the mean normal activity level) has identified a group of children with parti...
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