Krabbe disease: Clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards

Molecular Genetics and Metabolism - Tập 105 Số 1 - Trang 126-131 - 2012
R.L. Puckett1, Joseph J. Orsini2, GM Pastores3, R.Y. Wang4, Richard Chang4, Carlos A. Saavedra‐Matiz2, Paola Torres3, Bai Jin Zeng3, Michele Caggana2, Fred Lorey5, José E. Abdenur4
1Division of Metabolic Disorders, CHOC Children's, Orange, CA 92868, USA
2Newborn Screening Program, New York State Department of Health, Albany, NY, USA
3New York University School of Medicine, New York City, NY, USA
4Division of Metabolic Disorders, CHOC Children's, Orange, CA, USA
5Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, USA

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