Chapter-18 Genetic Counseling Approach in Lysosomal Storage Disorders
BOOK TITLE: Genetic Counseling: Clinical and Laboratory Approach
Author
1. Sheth Jayesh
2. Nair Aadhira
3. Sheth Harsh
ISBN
9789354652127
DOI
10.5005/jp/books/18605_19
Edition
1/e
Publishing Year
2022
Pages
20
Author Affiliations
1.
Institute of Human Genetics, Ahmedabad, Gujarat, India
2.
Institute of Human Genetics, Ahmedabad, Gujarat, India
3.
Foundation for Research in Genetics and Endocrinology (FRIGE) Institute of Human Genetics, Ahmedabad, Gujarat, India
Chapter keywords
Lysosomal storage disorder,
LSD,
genetic counseling,
enzyme replacement therapy,
ERT,
LSD screening method,
enzyme testing,
molecular testing,
newborn screening,
prenatal diagnostic test,
x-linked recessive inheritance