Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis

The American Journal of Human Genetics - Tập 103 - Trang 125-130 - 2018
David Coman1,2,3,4, Lisenka E.L.M. Vissers5, Lisa G. Riley6,7, Michael P. Kwint5, Roxanna Hauck7, Janet Koster8, Sinje Geuer5, Sarah Hopkins9, Barbra Hallinan10, Larry Sweetman11, Udo F.H. Engelke12, T. Andrew Burrow13, John Cardinal2, James McGill1,14,3, Anita Inwood1, Christine Gurnsey14, Hans R. Waterham8, John Christodoulou7,15,6,16, Ron A. Wevers12, James Pitt16,17
1Department of Metabolic Medicine, Lady Cilento Children’s Hospital, Brisbane, QLD 4101, Australia
2Department of Paediatrics, Wesley Hospital, Brisbane, QLD 4066, Australia
3School of Medicine, University of Queensland, Brisbane, QLD 4067, Australia
4School of Medicine, Griffith University, Gold Coast, QLD 4222, Australia
5Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands
6Genetic Metabolic Disorders Research Group, Sydney Children’s Hospital Network, Sydney NSW 2145, Australia
7Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia
8Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, 105 AZ Amsterdam, the Netherlands
9Division of Neurology, Children’s Hospital, Philadelphia, PA 19104, USA
10Division of Neurology, Cincinnati Children’s Medical Centre, Cincinnati, OH 45229, USA
11Institute of Metabolic Disease, Baylor Scott & White Research Institute, Baylor University Medical Center, Dallas, TX 75204, USA
12Translational Metabolic Laboratory - 830 TML, Department of Laboratory Medicine, Radboud University Medical Centre, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands
13University of Arkansas for Medical Sciences College of Medicine, Department of Pediatrics Little Rock, Arkansas, AR 72205, USA
14Department of Chemical Pathology, Pathology Queensland, Royal Brisbane & Women’s Hospital, Brisbane, QLD 4006, Australia
15Neurodevelopmental Genomics Research Group, Murdoch Children’s Research Institute, Melbourne VIC 3052, Australia
16Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, VIC 3052, Australia
17Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia

Tài liệu tham khảo

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The American Journal of Human Genetics

Tập 103

125-130

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