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Report of the first Brazilian patients with MPS IIID, with the observation of an unexpected increase of di-sulfated keratan sulfate

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Year: 2021
Type: article
Source: Molecular Genetics and Metabolism
DOI: 10.1016/j.ymgme.2020.12.131
Authors: Francyne Kubaski, Diego Miguel, Carlos H.P. Grangeiro, Diana R. Malaga, Ana C. Brusius-Facchin, Franciele B. Trapp, Fernanda M. Sebastiao, Maira G. Burin, Kristiane Michelin-Tirelli, Robert W. Mason, Shunji Tomatsu, Roberto Giugliani
Institutions: Universidade Federal do Rio Grande do Sul, Hospital de Clínicas de Porto Alegre, Universidade Federal da Bahia, University of Delaware, Alfred I. duPont Hospital for Children
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
OpenAlex ID: W3128177294
FWCI:
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Related to: 10
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