Title : Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.

Pub. Date : 2022 Mar

PMID : 34806811






2 Functional Relationships(s)
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Protein Name
Organism
1 Mucopolysaccharidosis type IIIB is a rare autosomal recessive disorder characterized by deficiency of the enzyme N-acetyl-alpha-d-glucosaminidase (NAGLU), caused by biallelic pathogenic variants in the NAGLU gene, which leads to storage of heparan sulfate and a series of clinical consequences which hallmark is neurodegeneration. Heparitin Sulfate N-acetyl-alpha-glucosaminidase Homo sapiens
2 Mucopolysaccharidosis type IIIB is a rare autosomal recessive disorder characterized by deficiency of the enzyme N-acetyl-alpha-d-glucosaminidase (NAGLU), caused by biallelic pathogenic variants in the NAGLU gene, which leads to storage of heparan sulfate and a series of clinical consequences which hallmark is neurodegeneration. Heparitin Sulfate N-acetyl-alpha-glucosaminidase Homo sapiens