Work

Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community

Year: 2008

Type: article

Study design: Observational Study

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2008.02.008

Authors: Sofia Quental, Sandra Macedo-Ribeiro, Raquel Matos, Laura Vilarinho, Esmeralda Martins, Elisa Leão Teles, Esmeralda Rodrigues, Luísa Diogo, Paula Garcia, Filomena Eusébio, Ana Gaspar, Sílvia Sequeira, Fátima Furtado, Isabel Lança, António Amorim, Maria João Prata

Institutions: Universidade do Porto, Instituto de Biologia Molecular e Celular, Hospital Maria Pia, Hospital de São João, Unidade Local de Saúde de Coimbra, Hospital de Santa Maria, Hospital de Dona Estefânia, Unidade Local de Saúde do Baixo Alentejo

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2016266481

FWCI: 2.158

Cites: 28

Cited by: 42

Related to: 10