Mucopolysaccharidosis IV

"Mucopolysaccharidosis IV" 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

Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme.

Descriptor ID

D009085

MeSH Number(s)

C16.320.565.202.715.655

C16.320.565.595.600.655

C17.300.550.575.655

C18.452.648.202.715.655

C18.452.648.595.600.655

Concept/Terms

Mucopolysaccharidosis IV

Mucopolysaccharidosis Type IV A

Mucopolysaccharidosis Type IV B

GALNS Deficiency

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

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 IV [C16.320.565.202.715.655]
Lysosomal Storage Diseases [C16.320.565.595]
Mucopolysaccharidoses [C16.320.565.595.600]
Mucopolysaccharidosis IV [C16.320.565.595.600.655]
Skin and Connective Tissue Diseases [C17]
Connective Tissue Diseases [C17.300]
Mucinoses [C17.300.550]
Mucopolysaccharidoses [C17.300.550.575]
Mucopolysaccharidosis IV [C17.300.550.575.655]
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 IV [C18.452.648.202.715.655]
Lysosomal Storage Diseases [C18.452.648.595]
Mucopolysaccharidoses [C18.452.648.595.600]
Mucopolysaccharidosis IV [C18.452.648.595.600.655]

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

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

publications

Timeline | Most Recent

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

Bar chart showing 5 publications over 5 distinct years, with a maximum of 1 publications in 2007 and 2012 and 2014 and 2015 and 2021

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

Year	Major Topic	Minor Topic	Total
2007	1	0	1
2012	0	1	1
2014	1	0	1
2015	1	0	1
2021	1	0	1

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

The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report. Am J Med Genet A. 2021 11; 185(11):3510-3516.

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Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study. Am J Med Genet A. 2015 Oct; 167A(10):2272-81.

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Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome. Clin Genet. 2014 Nov; 86(5):469-72.

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Mucopolysaccharidosis type IVA: evidence of primary and secondary central nervous system involvement. Am J Med Genet A. 2014 May; 164A(5):1162-9.

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Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus. J Med Genet. 2012 Jul; 49(7):455-61.

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Tracheomalacia in an adult with respiratory failure and Morquio syndrome. Respir Care. 2007 Mar; 52(3):278-82.

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A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI. Chin Med J (Engl). 2004 Dec; 117(12):1850-2.

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Echocardiographic abnormalities in type IV mucopolysaccharidosis. Arch Dis Child. 1990 Jul; 65(7):746-9.

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Direct quantitation of glycosaminoglycans in 2 mL of urine from patients with mucopolysaccharidoses. Clin Chem. 1981 Jan; 27(1):124-8.

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Russell bodies and plasma cells in human conjunctiva. Am J Ophthalmol. 1973 Dec; 76(6):957-66.

View in: PubMed

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