Title : Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.

Pub. Date : 2021 Sep

PMID : 33960103






2 Functional Relationships(s)
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1 Mucopolysaccharidosis type II (MPS II) is an X-linked inherited disease caused by pathogenic variants in the IDS gene, leading to deficiency of the lysosomal enzyme iduronate-2-sulfatase and consequent widespread storage of glycosaminoglycans, leading to several clinical consequences, with progressive manifestations which most times includes cognitive decline. Glycosaminoglycans iduronate 2-sulfatase Homo sapiens
2 Mucopolysaccharidosis type II (MPS II) is an X-linked inherited disease caused by pathogenic variants in the IDS gene, leading to deficiency of the lysosomal enzyme iduronate-2-sulfatase and consequent widespread storage of glycosaminoglycans, leading to several clinical consequences, with progressive manifestations which most times includes cognitive decline. Glycosaminoglycans iduronate 2-sulfatase Homo sapiens