Mutations in ARSB in MPS VI patients in India.

Mathew, Juby; Jagadeesh, Sujatha M; Bhat, Meenakshi; Udhaya Kumar, S; Thiyagarajan, Saravanamuthu; Srinivasan, Sudha.

Afiliação

Mathew J; Centre for Human Genetics (CHG), Bangalore, India.
Jagadeesh SM; Department of Clinical Genetics, Fetal Care Research Foundation (FCRF), Chennai, India.
Bhat M; Centre for Human Genetics (CHG), Bangalore, India.
Udhaya Kumar S; Centre for Human Genetics (CHG), Bangalore, India.
Thiyagarajan S; Institute of Bioinformatics and Applied Biotechnology (IBAB), Bangalore, India.
Srinivasan S; Centre for Human Genetics (CHG), Bangalore, India.

Mol Genet Metab Rep ; 4: 53-61, 2015 Sep.

Article em En | MEDLINE | ID: mdl-26937411

Palavras-chave

ARSB, arylsulfatase B; Active site; Arylsulfatase B (ARSB); ERT, enzyme replacement therapy; GAG, glycosaminoglycan; GALNS, N-acetyl galactosamine 6-sulfatase; HGMD, Human Gene Mutation Database; HSCT, hematopoietic stem cell transplantation; Inborn error of metabolism (IEM); India; LSD, lysosomal storage disorder; Lysosomal enzyme; Lysosomal storage disorder (LSD); MPS, mucopolysaccharidosis; MaroteauxLamy syndrome; Mucopolysaccharidosis VI (MPS VI); Mutations; PCT, pharmacological chaperone therapy; VUS, variants of unknown significance

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2015 Tipo de documento: Article