Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors.

Sheth, Jayesh; Mohapatra, Ira; Patra, Gangotri; Bhavsar, Riddhi; Patel, Chandni; Shah, Siddharth; Nair, Aadhira.

Afiliação

Sheth J; Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India.
Mohapatra I; Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India.
Patra G; Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India.
Bhavsar R; Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India.
Patel C; Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India.
Shah S; Consultant Pediatric Neurologist, Royal Institute of Child Neurosciences, Vastrapur, Ahmedabad, Gujarat, India.
Nair A; Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India.

Ann Indian Acad Neurol ; 25(3): 502-505, 2022.

Article em En | MEDLINE | ID: mdl-35936646

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article