Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency

Molecular Genetics and Metabolism - Tập 120 Số 4 - Trang 342-349 - 2017
Jirair K. Bedoyan1,2,3, Samuel Yang4, Sacha Ferdinandusse5, Rhona M. Jack6, Alexander Miron3, George Grahame2, Suzanne D. DeBrosse1,3, Charles L. Hoppel2,7,8, Douglas S. Kerr2,9, Ronald J. A. Wanders5
1Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, USA
2Center for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Cleveland Medical Center, Cleveland, OH, USA
3Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA
4Clinical Genomics and Predictive Medicine, Providence Medical Group, Spokane, WA, USA
5Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases Academic Medical Center, University of Amsterdam Amsterdam the Netherlands
6Seattle Children's Hospital Laboratory, University of Washington, Seattle, WA, USA
7Department of Medicine, Case Western Reserve University, Cleveland, OH, USA
8Department of Pharmacology, Case Western Reserve University, Cleveland, OH, USA
9Department of Pediatrics, Case Western Reserve University, Cleveland, OH, USA

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