Metabolite studies in HIBCH and ECHS1 defects: Implications for screening

Molecular Genetics and Metabolism - Tập 115 Số 4 - Trang 168-173 - 2015
Heidi Peters1, Sacha Ferdinandusse2, Jos P.N. Ruiter2, Ronald J. A. Wanders2, Avihu Boneh3, James Pitt4,5
1Metabolic Research, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne Australia
2Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
3Department of Paediatrics, University of Melbourne, Australia; Metabolic Research, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne Australia.
4Department of Paediatrics, University of Melbourne, Australia
5Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Australia

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