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Mucopolysaccharidosis VI

Known as: Mucopolysaccharidosis VI [Disease/Finding], MPS VI, MAROTEAUX-LAMY SYNDROME 
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylgalactosamine-4-sulfatase. It is characterized by… 
National Institutes of Health

Related topics

Related topics

32 relations
Aseptic Necrosis of Femur HeadAutosomal recessive inheritanceCarpal Tunnel SyndromeCervical myelopathy

Broader (2)

Enzyme Deficiencycongenital deficiency

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2005
2005
Newborn screening for lysosomal storage disorders.
The concept of screening newborns for inherited metabolic disorders was the brainchild of Robert Guthrie, an upstate New York… 
Highly Cited
1998
Highly Cited
1998
Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes.
Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-4-sulfatase… 
1994
1994
Glycosylation and phosphorylation of arylsulfatase A.
The glycosylation and phosphorylation of the lysosomal enzyme arylsulfatase A was analyzed by a combination of metabolic labeling… 
1993
1993
Overexpression of N-acetylgalactosamine-4-sulphatase induces a multiple sulphatase deficiency in mucopolysaccharidosis-type-VI fibroblasts.
High-titre stocks of an amphotropic retrovirus, constructed so as to express a full-length cDNA encoding the human lysosomal… 
Highly Cited
1984
Highly Cited
1984
Correction of feline arylsulphatase B deficiency (mucopolysaccharidosis VI) by bone marrow transplantation
Feline and human mucopolysaccharidosis VI (MPS VI or Maroteaux–Lamy syndrome) are inherited autosomal recessive deficiencies of… 
1984
1984
Compressive myelopathy associated with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).
Spinal cord compression with resultant myelopathy is a frequent occurrence in patients with mucopolysaccharidoses. Etiological… 
1983
1983
Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.
Metachromatic leukodystrophy is a hereditary neurodegenerative disorder in man associated with deficient arylsulfatase-A activity… 
1980
1980
Enzymatic studies of urinary isomeric chondroitin sulfates from patients with mucopolysaccharidoses. The application of high performance liquid chromatography.
Highly Cited
1975
Highly Cited
1975
Uridine diphospho-N-acetylgalactosamine-4-sulfate sulfohydrolase activity of human arylsulfatase B and its deficiency in the Maroteaux-Lamy syndrome.
1974
1974
Sulfoglycerogalactolipid from rat testis: a substrate for pure human arylsulfatase A.
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