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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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

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

Below are MeSH descriptors whose meaning is more general than "Mucopolysaccharidosis III".

Diseases [C]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Metabolism, Inborn Errors [C16.320.565]
Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
Mucopolysaccharidoses [C16.320.565.202.715]
Mucopolysaccharidosis III [C16.320.565.202.715.650]
Lysosomal Storage Diseases [C16.320.565.595]
Mucopolysaccharidoses [C16.320.565.595.600]
Mucopolysaccharidosis III [C16.320.565.595.600.650]
Skin and Connective Tissue Diseases [C17]
Connective Tissue Diseases [C17.300]
Mucinoses [C17.300.550]
Mucopolysaccharidoses [C17.300.550.575]
Mucopolysaccharidosis III [C17.300.550.575.650]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Metabolism, Inborn Errors [C18.452.648]
Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]
Mucopolysaccharidoses [C18.452.648.202.715]
Mucopolysaccharidosis III [C18.452.648.202.715.650]
Lysosomal Storage Diseases [C18.452.648.595]
Mucopolysaccharidoses [C18.452.648.595.600]
Mucopolysaccharidosis III [C18.452.648.595.600.650]

Below are MeSH descriptors whose meaning is related to "Mucopolysaccharidosis III".

Below are MeSH descriptors whose meaning is more specific than "Mucopolysaccharidosis III".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Mucopolysaccharidosis III" by people in Harvard Catalyst Profiles by year, and whether "Mucopolysaccharidosis III" was a major or minor topic of these publication.

Bar chart showing 8 publications over 8 distinct years, with a maximum of 1 publications in 2011 and 2014 and 2015 and 2016 and 2019 and 2020 and 2021 and 2022

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2011	1	0	1
2014	1	0	1
2015	1	0	1
2016	1	0	1
2019	0	1	1
2020	1	0	1
2021	1	0	1
2022	1	0	1

Below are the most recent publications written about "Mucopolysaccharidosis III" by people in Profiles.

Glucosamine amends CNS pathology in mucopolysaccharidosis IIIC mouse expressing misfolded HGSNAT. J Exp Med. 2022 08 01; 219(8).

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Early defects in mucopolysaccharidosis type IIIC disrupt excitatory synaptic transmission. JCI Insight. 2021 08 09; 6(15).

View in: PubMed
Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome. Mol Genet Metab. 2021 06; 133(2):185-192.

View in: PubMed
Proteomic Analysis of Mucopolysaccharidosis IIIB Mouse Brain. Biomolecules. 2020 02 26; 10(3).

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Structural characterization of the a-N-acetylglucosaminidase, a key enzyme in the pathogenesis of Sanfilippo syndrome B. J Struct Biol. 2019 03 01; 205(3):65-71.

View in: PubMed
Trehalose reduces retinal degeneration, neuroinflammation and storage burden caused by a lysosomal hydrolase deficiency. Autophagy. 2018; 14(8):1419-1434.

View in: PubMed
A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA. J Pediatr. 2016 Mar; 170:278-87.e1-4.

View in: PubMed
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.

View in: PubMed
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). Hum Mol Genet. 2015 Jul 01; 24(13):3742-51.

View in: PubMed
The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape. Mol Genet Metab. 2014 Sep-Oct; 113(1-2):34-41.

View in: PubMed

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Mol Genet Metab
JCI Insight
J Pediatr
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J Exp Med
Hum Mol Genet
Hum Gene Ther
Biomolecules
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