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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.
Review
2020
Review
2020
Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the… 
Review
2017
Review
2017
Mucopolysaccharidosis IVA and glycosaminoglycans.
Review
2014
Review
2014
A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases
BackgroundMorquio A (MPS IVA) is a rare disease characterised by a deficiency of N-acetylgalactosamine-6 sulfatase (GALNS) and… 
Highly Cited
1993
Highly Cited
1993
Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24.
Plasmid clones of three independent genomic fragments of the gene for human N-acetylgalactosamine-6-sulfate sulfatase (GALNS; EC… 
Highly Cited
1989
Highly Cited
1989
Molecular studies of deletions at the human steroid sulfatase locus.
The human steroid sulfatase gene (STS) is located on the distal X chromosome short arm close to the pseudoautosomal region but in… 
Highly Cited
1974
Highly Cited
1974
LYSOSOMAL PACKAGING IN DIFFERENTIATING AND DEGENERATING ANURAN LATERAL MOTOR COLUMN NEURONS
The role of the Golgi apparatus and the Golgi-endoplasmic reticulum-lysosome complex (GERL) in the genesis of lysosomes was… 
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… 
Highly Cited
1973
Highly Cited
1973
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). I. Sulfatase B deficiency in tissues.
Sulfatase B activity was deficient in tissues from patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome; MPS VI… 
Highly Cited
1973
Highly Cited
1973
Studies in metachromatic leukodystrophy. XII. Multiple sulfatase deficiency.
Multiple sulfatase deficiency form of metachromatic leukodystrophy (MSD-MLD) occurred in a young boy. In blood smears, leukocyte… 
Highly Cited
1972
Highly Cited
1972
Studies on the effect of denervation in developing muscle. II. The lysosomal system.
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