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Newborn screening of mucopolysaccharidoses: past, present, and future

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Year: 2020
Type: review
Source: Journal of Human Genetics
DOI: 10.1038/s10038-020-0744-8
Authors: Nivethitha Arunkumar, Thomas J. Langan, Molly Stapleton, Francyne Kubaski, Robert W. Mason, Rajendra Singh, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu
Institutions: Alfred I. duPont Hospital for Children, University of Delaware, University at Buffalo, State University of New York, Universidade Federal do Rio Grande do Sul, Hospital de Clínicas de Porto Alegre, National Institute on Population Medical Genetics, Baebies (United States), Shimane University, Gifu University, Medical Education Development Center, Gifu University, Thomas Jefferson University, University of Shimane
Language: English

Topic: Lysosomal Storage Disorders Research
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
SDG: Good health and well-being

Open Access status: closed

Funders: National Institute of General Medical Sciences, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: Center for Pediatric Research (CPR), Oral tolerance in enzyme replacement therapy of Morquio A disease, Newborn Screening and Biomarkers for Mucopolysaccharidoses
OpenAlex ID: W3016232076
FWCI: 0.988
Cites: 72
Cited by: 33
Related to: 10
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