Novel Mutation in the IDS Gene in Hunter Syndrome Associated with Severe Cardiac Lesions.

Satekge, Tumelo M; Honey, Engela M; Pitso, Boitumelo; Dercksen, Marli; Pillay, Tahir S

Satekge, Tumelo M; Honey, Engela M; Pitso, Boitumelo; Dercksen, Marli; Pillay, Tahir S.

Afiliação

Satekge TM; Department of Chemical Pathology and National Health Laboratory Service, Tshwane Academic Division, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa.
Honey EM; Department of Biochemistry, Genetics and Microbiology, Faculty of Natural and Agricultural Science, University of Pretoria, Pretoria, South Africa.
Pitso B; Department of Paediatric Pulmonology, University of Pretoria, Pretoria, South Africa.
Dercksen M; Human Metabolomics, Faculty of Natural and Agricultural Sciences, North-West University, Potchefstroom, South Africa.
Pillay TS; Department of Chemical Pathology and National Health Laboratory Service, Tshwane Academic Division, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa.

Clin Chem ; 67(3): 564-566, 2021 03 01.

Article em En | MEDLINE | ID: mdl-33674846

Assuntos

Glicoproteínas/genética; Cardiopatias Congênitas/diagnóstico; Cardiopatias Congênitas/genética; Mucopolissacaridose II/diagnóstico; Mucopolissacaridose II/genética; Mutação; Cardiopatias Congênitas/complicações; Humanos; Lactente; Masculino; Mucopolissacaridose II/complicações

Palavras-chave

Hunter syndrome; IDS; congenital heart defects; glycosaminoglycans; iduronate 2-sulfatase; inborn error of metabolism; lysosomal storage disease; mucopolysaccharidosis type II

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Glicoproteínas / Mucopolissacaridose II / Cardiopatias Congênitas / Mutação Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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