Pub. Date : 2020 Dec
PMID : 33304816
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Introduction: Mucopolysaccharidosis type IV A (MPS IVA) or Morquio A syndrome is an autosomal recessive lysosomal storage disease caused by GALNS gene mutations that lead to a deficiency of the N-acetylgalactosamine-6-sulfate sulfatase enzyme and the accumulation of two glycosaminoglycans in cell lysosomes, namely, chondroitin and keratan sulfate. | Glycosaminoglycans | galactosamine (N-acetyl)-6-sulfatase | Homo sapiens |