Mucopolysaccharidoses

"Mucopolysaccharidoses" 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

Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.

Descriptor ID	D009083
MeSH Number(s)	C16.320.565.202.715 C16.320.565.595.600 C17.300.550.575 C18.452.648.202.715 C18.452.648.595.600
Concept/Terms	Mucopolysaccharidoses Mucopolysaccharidoses Mucopolysaccharidosis

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

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]
Lysosomal Storage Diseases [C16.320.565.595]
Mucopolysaccharidoses [C16.320.565.595.600]
Skin and Connective Tissue Diseases [C17]
Connective Tissue Diseases [C17.300]
Mucinoses [C17.300.550]
Mucopolysaccharidoses [C17.300.550.575]
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]
Lysosomal Storage Diseases [C18.452.648.595]
Mucopolysaccharidoses [C18.452.648.595.600]

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

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Mucopolysaccharidoses" by people in this website by year, and whether "Mucopolysaccharidoses" was a major or minor topic of these publications.

Bar chart showing 32 publications over 13 distinct years, with a maximum of 5 publications in 2019

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

Year	Major Topic	Minor Topic	Total
2007	1	1	2
2009	1	0	1
2012	1	0	1
2013	1	0	1
2014	2	0	2
2015	1	0	1
2016	4	0	4
2017	2	0	2
2018	3	1	4
2019	4	1	5
2020	4	0	4
2022	3	0	3
2024	2	0	2

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

Khan SA, Nidhi F, Leal AF, Celik B, Herre?o-Pach?n AM, Saikia S, Benincore-Fl?rez E, Ago Y, Tomatsu S. Glycosaminoglycans in mucopolysaccharidoses and other disorders. Adv Clin Chem. 2024; 122:1-52.

View in: PubMed
Ago Y, Rintz E, Musini KS, Ma Z, Tomatsu S. Molecular Mechanisms in Pathophysiology of Mucopolysaccharidosis and Prospects for Innovative Therapy. Int J Mol Sci. 2024 Jan 17; 25(2).

View in: PubMed
Leal AF, Benincore-Fl?rez E, Rintz E, Herre?o-Pach?n AM, Celik B, Ago Y, Alm?ciga-D?az CJ, Tomatsu S. Mucopolysaccharidoses: Cellular Consequences of Glycosaminoglycans Accumulation and Potential Targets. Int J Mol Sci. 2022 Dec 28; 24(1).

View in: PubMed
Piechnik M, Amendum PC, Sawamoto K, Stapleton M, Khan S, Fnu N, ?lvarez V, Pachon AMH, Danos O, Bruder JT, Karumuthil-Melethil S, Tomatsu S. Sex Difference Leads to Differential Gene Expression Patterns and Therapeutic Efficacy in Mucopolysaccharidosis IVA Murine Model Receiving AAV8 Gene Therapy. Int J Mol Sci. 2022 Oct 21; 23(20).

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Pan X, Taherzadeh M, Bose P, Heon-Roberts R, Nguyen ALA, Xu T, Par? C, Yamanaka Y, Priestman DA, Platt FM, Khan S, Fnu N, Tomatsu S, Morales CR, Pshezhetsky AV. Glucosamine amends CNS pathology in mucopolysaccharidosis IIIC mouse expressing misfolded HGSNAT. J Exp Med. 2022 08 01; 219(8).

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Piechnik M, Sawamoto K, Ohnishi H, Kawamoto N, Ago Y, Tomatsu S. Evading the AAV Immune Response in Mucopolysaccharidoses. Int J Mol Sci. 2020 May 13; 21(10).

View in: PubMed
Arunkumar N, Langan TJ, Stapleton M, Kubaski F, Mason RW, Singh R, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Newborn screening of mucopolysaccharidoses: past, present, and future. J Hum Genet. 2020 Jul; 65(7):557-567.

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Khan SA, Mason RW, Kobayashi H, Yamaguchi S, Tomatsu S. Advances in glycosaminoglycan detection. Mol Genet Metab. 2020 06; 130(2):101-109.

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Oguni T, Tomatsu S, Tanaka M, Orii K, Fukao T, Watanabe J, Fukuda S, Notsu Y, Vu DC, Can TBN, Nagai A, Yamaguchi S, Taketani T, Gelb MH, Kobayashi H. Validation of Liquid Chromatography-Tandem Mass Spectrometry-Based 5-Plex Assay for Mucopolysaccharidoses. Int J Mol Sci. 2020 Mar 16; 21(6).

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Chen HH, Sawamoto K, Mason RW, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Tomatsu S. Enzyme replacement therapy for mucopolysaccharidoses; past, present, and future. J Hum Genet. 2019 Nov; 64(11):1153-1171.

View in: PubMed

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