Mucopolysaccharidosis VI

"Mucopolysaccharidosis VI" 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 with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).

Descriptor ID	D009087
MeSH Number(s)	C16.320.565.202.715.670 C16.320.565.595.600.670 C17.300.550.575.670 C18.452.648.202.715.670 C18.452.648.595.600.670
Concept/Terms	Mucopolysaccharidosis VI Mucopolysaccharidosis VI Arylsulfatase B Deficiency Arylsulfatase B Deficiencies Deficiencies, Arylsulfatase B Deficiency, Arylsulfatase B Maroteaux-Lamy Syndrome Maroteaux Lamy Syndrome Syndrome, Maroteaux-Lamy Mucopolysaccharidosis Type VI Type VI, Mucopolysaccharidosis Mucopolysaccharidosis Type 6 Type 6, Mucopolysaccharidosis N-Acetylgalactosamine-4-Sulfatase Deficiency Deficiencies, N-Acetylgalactosamine-4-Sulfatase Deficiency, N-Acetylgalactosamine-4-Sulfatase N-Acetylgalactosamine-4-Sulfatase Deficiencies Polydystrophic Dwarfism Dwarfism, Polydystrophic ARSB Deficiency ARSB Deficiencies Deficiencies, ARSB Deficiency, ARSB Mucopolysaccharidosis 6

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

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 VI [C16.320.565.202.715.670]
Lysosomal Storage Diseases [C16.320.565.595]
Mucopolysaccharidoses [C16.320.565.595.600]
Mucopolysaccharidosis VI [C16.320.565.595.600.670]
Skin and Connective Tissue Diseases [C17]
Connective Tissue Diseases [C17.300]
Mucinoses [C17.300.550]
Mucopolysaccharidoses [C17.300.550.575]
Mucopolysaccharidosis VI [C17.300.550.575.670]
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 VI [C18.452.648.202.715.670]
Lysosomal Storage Diseases [C18.452.648.595]
Mucopolysaccharidoses [C18.452.648.595.600]
Mucopolysaccharidosis VI [C18.452.648.595.600.670]

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

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

publications

Timeline | Most Recent

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

Bar chart showing 7 publications over 7 distinct years, with a maximum of 1 publications in 1997 and 1998 and 2017 and 2018 and 2019 and 2020 and 2022

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

Year	Major Topic	Minor Topic	Total
1997	1	0	1
1998	1	0	1
2017	0	1	1
2018	0	1	1
2019	0	1	1
2020	0	1	1
2022	1	0	1

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

Bruce IA, Ezg? FS, Kampmann C, Kenis V, Mackenzie W, Stevens B, Walker R, Hendriksz C. Addressing the need for patient-friendly medical communications: adaptation of the 2019 recommendations for the management of MPS VI and MPS IVA. Orphanet J Rare Dis. 2022 03 02; 17(1):91.

View in: PubMed
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).

View in: PubMed
Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer J, Okuyama T, Orchard PJ, Stevens B, Thomas S, Walker R, Wynn R, Giugliani R, Harmatz P, Hendriksz C, Scarpa M. Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. Orphanet J Rare Dis. 2019 05 29; 14(1):118.

View in: PubMed
Khan SA, Mason RW, Giugliani R, Orii K, Fukao T, Suzuki Y, Yamaguchi S, Kobayashi H, Orii T, Tomatsu S. Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis. Mol Genet Metab. 2018 09; 125(1-2):44-52.

View in: PubMed
Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, Mason RW, Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu S. Epidemiology of mucopolysaccharidoses. Mol Genet Metab. 2017 07; 121(3):227-240.

View in: PubMed
Sukegawa K, Tomatsu S, Kondo N, Orii T. [Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)]. Ryoikibetsu Shokogun Shirizu. 1998; (19 Pt 2):446-8.

View in: PubMed
Varssano D, Cohen EJ, Nelson LB, Eagle RC. Corneal transplantation in Maroteaux-Lamy syndrome. Arch Ophthalmol. 1997 Mar; 115(3):428-9.

View in: PubMed

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