Work

Prenatal diagnosis of mucopolysaccharidosis type VI by analysis of the amniotic fluid supernatant in the mass spectrometry era

Year: 2022

Type: article

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2021.11.173

Authors: Francyne Kubaski, Ana Cecília Menezes, Zackary M. Herbst, Danilo Pereira, Camilo Silva, Larissa Faqueti, Gabrielle Iop, Franciele B. Trapp, Ana Carolina Brusius-Facchin, Alice B.O. Netto, Rejane G. Kessler, Kristiane Michelin-Tirelli, Maira G. Burin, Robert W. Mason, Shunji Tomatsu, Roberto Giugliani

Institutions: Universidade Federal do Rio Grande do Sul, Hospital de Clínicas de Porto Alegre, Instituto de Medicina Integral Professor Fernando Figueira, University of Washington, 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: W4210313782

FWCI:

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