Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses

Molecular Genetics and Metabolism - Tập 120 - Trang 247-254 - 2017
Francyne Kubaski1,2,3, Yasuyuki Suzuki4, Kenji Orii5, Roberto Giugliani3,6,7, Heather J. Church8, Robert W. Mason1,2, Vũ Chí Dũng9, Can Thi Bich Ngoc9, Seiji Yamaguchi10, Hironori Kobayashi10, Katta M. Girisha11, Toshiyuki Fukao5, Tadao Orii5, Shunji Tomatsu1,5
1Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States
2Department of Biological Sciences, University of Delaware, Newark, DE, United States
3INAGEMP, Porto Alegre, Brazil
4Medical Education Development Center, Gifu University, Japan
5Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan
6Medical Genetics Service, HCPA, Porto Alegre, Brazil
7Department of Genetics, UFRGS, Porto Alegre, Brazil
8Willink Biochemical Genetics Unit, Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust St Mary's Hospital, Manchester, UK
9Vietnam National Children's Hospital, Department of Medical Genetics, Metabolism & Endocrinology, Hanoi, Vietnam
10Department of Pediatrics, Shimane University, Shimane, Japan
11Department of Medical Genetics, Kasturba Medical College Manipal, Manipal University, India

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