Mucopolysaccharidosis III
"Mucopolysaccharidosis III" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.
| Descriptor ID |
D009084
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| MeSH Number(s) |
C16.320.565.202.715.650 C16.320.565.595.600.650 C17.300.550.575.650 C18.452.648.202.715.650 C18.452.648.595.600.650
|
| Concept/Terms |
Mucopolysaccharidosis III- Mucopolysaccharidosis III
- Mucopolysaccharidosis IIIs
- Sanfilippo Syndrome
- Sanfilippo Syndromes
- Syndrome, Sanfilippo
- Syndromes, Sanfilippo
- Mucopolysaccharidosis 3
- San Filippo's Syndrome
- San Filippo Syndrome
- San Filippos Syndrome
- Syndrome, San Filippo's
- Polydystrophic Oligophrenia
- Oligophrenia, Polydystrophic
- Oligophrenias, Polydystrophic
- Polydystrophic Oligophrenias
- Sanfilippo's Syndrome
- Sanfilippos Syndrome
- Syndrome, Sanfilippo's
MPS III D- MPS III D
- Mucopolysaccharidosis Type 3 D
- Mucopolysaccharidosis Type IIID
- Mucopolysaccharidosis Type IIIDs
- Sanfilippo Syndrome D
- N-Acetylglucosamine-6-Sulfatase Deficiency
- Deficiencies, N-Acetylglucosamine-6-Sulfatase
- Deficiency, N-Acetylglucosamine-6-Sulfatase
- N Acetylglucosamine 6 Sulfatase Deficiency
- N-Acetylglucosamine-6-Sulfatase Deficiencies
- MPS IIID
- MPS IIIDs
- MPS 3 D
- N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency
- Deficiencies, N-Acetylglucosamine-6-Sulfate Sulfatase
- Deficiency, N-Acetylglucosamine-6-Sulfate Sulfatase
- N Acetylglucosamine 6 Sulfate Sulfatase Deficiency
- N-Acetylglucosamine-6-Sulfate Sulfatase Deficiencies
- Sulfatase Deficiencies, N-Acetylglucosamine-6-Sulfate
- Sulfatase Deficiency, N-Acetylglucosamine-6-Sulfate
MPS III C- MPS III C
- Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiency
- Acetyl CoA:alpha Glucosaminide N Acetyltransferase Deficiency
- Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiencies
- Deficiencies, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase
- Deficiency, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase
- N-Acetyltransferase Deficiencies, Acetyl-CoA:alpha-Glucosaminide
- N-Acetyltransferase Deficiency, Acetyl-CoA:alpha-Glucosaminide
- Mucopolysaccharidosis Type IIIC
- Mucopolysaccharidosis Type IIICs
- MPS 3 C
- MPS3C
- MPS IIIC
- Mucopolysaccharidosis Type 3 C
- Sanfilippo Syndrome C
MPS III A- MPS III A
- MPS 3 A
- Mucopolysaccharidosis Type 3 A
- Mucopolysaccharidosis Type IIIA
- Mucopolysaccharidosis Type IIIAs
- Sanfilippo Syndrome A
- Mucopolysaccharidosis Type 3 A Sanfilippo Syndrome
- Sulfamidase Deficiency
- Deficiencies, Sulfamidase
- Deficiency, Sulfamidase
- Sulfamidase Deficiencies
- MPS IIIA
- MPS3A
- Heparan Sulfate Sulfatase Deficiency
MPS III B- MPS III B
- Sanfilippo Syndrome B
- MPS3B
- Mucopolysaccharidosis Type IIIB
- Mucopolysaccharidosis Type IIIBs
- NAGLU Deficiency
- Deficiencies, NAGLU
- Deficiency, NAGLU
- NAGLU Deficiencies
- N-Acetyl-alpha-D-Glucosaminidase Deficiency
- Deficiencies, N-Acetyl-alpha-D-Glucosaminidase
- Deficiency, N-Acetyl-alpha-D-Glucosaminidase
- N Acetyl alpha D Glucosaminidase Deficiency
- N-Acetyl-alpha-D-Glucosaminidase Deficiencies
- MPS IIIB
- Mucopolysaccharidosis Type 3 B
- MPS 3 B
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Below are MeSH descriptors whose meaning is more general than "Mucopolysaccharidosis III".
Below are MeSH descriptors whose meaning is more specific than "Mucopolysaccharidosis III".
This graph shows the total number of publications written about "Mucopolysaccharidosis III" by people in this website by year, and whether "Mucopolysaccharidosis III" was a major or minor topic of these publications.
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click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2007 | 2 | 1 | 3 |
| 2009 | 0 | 1 | 1 |
| 2013 | 1 | 0 | 1 |
| 2014 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
| 2018 | 0 | 1 | 1 |
| 2019 | 0 | 1 | 1 |
| 2021 | 0 | 1 | 1 |
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Below are the most recent publications written about "Mucopolysaccharidosis III" by people in Profiles.
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Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders. Nat Commun. 2021 06 09; 12(1):3495.
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Emerging links between pediatric lysosomal storage diseases and adult parkinsonism. Mov Disord. 2019 05; 34(5):614-624.
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Trehalose reduces retinal degeneration, neuroinflammation and storage burden caused by a lysosomal hydrolase deficiency. Autophagy. 2018; 14(8):1419-1434.
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Electrophysiological and Histological Characterization of Rod-Cone Retinal Degeneration and Microglia Activation in a Mouse Model of Mucopolysaccharidosis Type IIIB. Sci Rep. 2015 Nov 26; 5:17143.
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Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial. Hum Gene Ther. 2014 Jun; 25(6):506-16.
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A rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cells. PLoS One. 2013; 8(6):e68060.
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A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA. EMBO Mol Med. 2013 May; 5(5):675-90.
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Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders. Int J Clin Pharmacol Ther. 2009; 47 Suppl 1:S34-8.
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A block of autophagy in lysosomal storage disorders. Hum Mol Genet. 2008 Jan 01; 17(1):119-29.
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Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes. Hum Mol Genet. 2007 Nov 15; 16(22):2693-702.