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MPS III D

Known as: MPS3D, Sanfilippo Syndrome D, MPS 3 D 
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by… 
National Institutes of Health

Related topics

Related topics

21 relations
Asymmetric Septal HypertrophyAutosomal recessive inheritanceDeglutition DisordersDiarrhea

Broader (1)

Mucopolysaccharidosis III

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2007
2007
Effect of ‘attenuated’ mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase
SummaryMucopolysaccharidosis IVA is an autosomal recessive disease caused by the deficiency of N-acetylgalactosamine-6-sulfate… 
2006
2006
Long-term memory for aversive training is impaired in Idua −/− mice, a genetic model of mucopolysaccharidosis type I
2002
2002
Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N‐acetylgalactosamine‐6‐sulfate sulfatase (GALNS) gene
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by the deficiency of N‐acetylgalactosamine‐6‐sulfate… 
1997
1997
Seminal profiles of lysosomal enzymes in normal and infertile men.
Human seminal plasma is known to possess considerable proteolytic activity, much of which is associated with lysosomes. The… 
1997
1997
Expression, purification and characterization of recombinant caprine N-acetylglucosamine-6-sulphatase.
Mucopolysaccharidosis type IIID or Sanfilippo D syndrome is a lysosomal storage disorder caused by the deficiency of N… 
1981
1981
The genetics of the aryl sulfatase A locus.
A genetic analysis was performed in an isolate in which metachromatic leukodystrophy (MLD) and aryl sulfatase A (ASA… 
1974
1974
Sulfogalactosylsphingosine sulfatase. Characteristics of the enzyme and its deficiency in metachromatic leukodystrophy in human cultured skin fibroblasts.
Abstract Sulfogalactosylsphingosine sulfatase activity was demonstrated in cultured human skin fibroblasts using 35S-labeled… 
1972
1972
Ultrastructural localization of aryl sulfatase activity in the epiphyseal plate.
Highly Cited
1971
Highly Cited
1971
Metachromatic Leukodystrophy (MLD): IX. Qualitative and Quantitative Differences in Urinary Arylsulfatase A in Different Forms of MLD
METACHROMATIC leukodystrophy (MLD) is characterized by deficient activity of sulfatase A (arylsulfatase A; cerebroside sulfatase… 
1966
1966
The sulfatase of ox liver. X. Some observations on the intermolecular bonding in sulfatase A.
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