Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the <i>PSAP</i> gene: Case report from India.

Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India.

Sheth, Jayesh; Nair, Aadhira; Bhavsar, Riddhi; Shah, Heli; Tayade, Naresh; Prabha, C Ratna; Sheth, Frenny; Sheth, Harsh.

Afiliação

Sheth J; FRIGE's Institute of Human Genetics, FRIGE House Ahmedabad India.
Nair A; FRIGE's Institute of Human Genetics, FRIGE House Ahmedabad India.
Bhavsar R; FRIGE's Institute of Human Genetics, FRIGE House Ahmedabad India.
Shah H; Smt. NHL Municipal Medical College Ahmedabad India.
Tayade N; Department of Pediatrics Dr. Panjabrao Deshmukh Memorial Medical College Amravati India.
Prabha CR; Department of Biochemistry, Faculty of Science The M. S. University of Baroda Vadodara India.
Sheth F; FRIGE's Institute of Human Genetics, FRIGE House Ahmedabad India.
Sheth H; FRIGE's Institute of Human Genetics, FRIGE House Ahmedabad India.

JIMD Rep ; 64(4): 265-273, 2023 Jul.

Article em En | MEDLINE | ID: mdl-37404680