Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia

Molecular Genetics and Metabolism Reports - Tập 10 - Trang 28-30 - 2017
S. Santra1, A. Macdonald2, M.A. Preece3, R.K. Olsen4, B.S. Andresen4,5
1Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, United Kingdom
2Department of Dietetics, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, United Kingdom
3Department of Newborn Screening and Biochemical Genetics, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, United Kingdom
4Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University and Aarhus University Hospital, Aarhus, Denmark
5The Villum Center for Bioanalytical Sciences and Department of Biochemistry and Molecular Biology, University of Southern Denmark, Odense, Denmark

Tài liệu tham khảo

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