Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene
Sign Up to like & getrecommendations! Published in 2019 at "Stem cell research"
DOI: 10.1016/j.scr.2019.101408
Abstract: Mucopolysaccharidosis type IVA (MPS IVA) is a rare genetic disease caused by mutations in the GALNS gene and is inherited in an autosomal recessive manner. GALNS encodes N-acetylgalactosamine-6-sulfatase that breaks down certain complex carbohydrates known… read more here.
Keywords: galns gene; mps iva; stem cell;
Natural Evolution of Morquio A Syndrome Caused by Two Heterozygous Mutations of the GALNS Gene
Sign Up to like & getrecommendations! Published in 2022 at "Balkan Medical Journal"
DOI: 10.4274/balkanmedj.galenos.2022.2022-1-72
Abstract: A 21-month-old boy (Figure 1a; Figure 1b) presented to the surgery department with foot and spine deformity. He was born after a fullterm pregnancy with no complications. His parents were healthy and nonconsanguineous. Birth anthropometric… read more here.
Keywords: caused two; galns gene; two heterozygous; heterozygous mutations ... See more keywords