Work

Quantification of glycosaminoglycans in mucopolysaccharidosis type IIID: The first Brazilian patient identified

Year: 2020

Type: article

Study design: Case Report

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2019.11.233

Authors: Francyne Kubaski, Diego Miguel, Danilo Pereira, Diana R. Malaga, Ana C. Brusius-Facchin, Franciele B. Trapp, Jurema F. de Mari, Maira G. Burin, Kristiane Michelin-Tirelli, Joanna G.C. Meira, Emilia Leao, 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, Universidade do Estado da Bahia, 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: W3003679597

FWCI:

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