Mucopolysaccharidosis I
"Mucopolysaccharidosis I" 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.
Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.
Descriptor ID |
D008059
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MeSH Number(s) |
C16.320.565.202.715.640 C16.320.565.595.600.640 C17.300.550.575.640 C18.452.648.202.715.640 C18.452.648.595.600.640
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Concept/Terms |
Mucopolysaccharidosis I- Mucopolysaccharidosis I
- Mucopolysaccharidosis Type I
- Lipochondrodystrophy
- Lipochondrodystrophies
- Mucopolysaccharidosis 1
Hurler Syndrome- Hurler Syndrome
- Syndrome, Hurler
- Hurler Disease
- Disease, Hurler
- Gargoylism
- Gargoylisms
- Hurler's Syndrome
- Hurlers Syndrome
- Syndrome, Hurler's
- Mucopolysaccharidosis Type Ih
- Mucopolysaccharidosis Type Ihs
- Type Ih, Mucopolysaccharidosis
- Type Ihs, Mucopolysaccharidosis
- Pfaundler-Hurler Syndrome
- Pfaundler Hurler Syndrome
- Syndrome, Pfaundler-Hurler
- Gargoylism, Hurler Syndrome
- Hurler Syndrome Gargoylism
- Hurler's Disease
- Disease, Hurler's
- Hurlers Disease
Scheie Syndrome- Scheie Syndrome
- Syndrome, Scheie
- Mucopolysaccharidosis I-S
- Mucopolysaccharidosis I S
- Scheie's Syndrome
- Syndrome, Scheie's
- Mucopolysaccharidosis Type Is
- Mucopolysaccharidosis V
- Mucopolysaccharidosis 5
- Mucopolysaccharidosis IS
alpha-L-Iduronidase Deficiency- alpha-L-Iduronidase Deficiency
- Deficiencies, alpha-L-Iduronidase
- Deficiency, alpha-L-Iduronidase
- alpha L Iduronidase Deficiency
- alpha-L-Iduronidase Deficiencies
Hurler-Scheie Syndrome- Hurler-Scheie Syndrome
- Hurler Scheie Syndrome
- Syndrome, Hurler-Scheie
- Mucopolysaccharidosis Type Ih/S
- Mucopolysaccharidosis Type Ih/Ss
- Type Ih/S, Mucopolysaccharidosis
- Type Ih/Ss, Mucopolysaccharidosis
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Below are MeSH descriptors whose meaning is more general than "Mucopolysaccharidosis I".
Below are MeSH descriptors whose meaning is more specific than "Mucopolysaccharidosis I".
This graph shows the total number of publications written about "Mucopolysaccharidosis I" by people in this website by year, and whether "Mucopolysaccharidosis I" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
Year | Major Topic | Minor Topic | Total |
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2006 | 1 | 0 | 1 | 2014 | 1 | 0 | 1 |
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Below are the most recent publications written about "Mucopolysaccharidosis I" by people in Profiles.
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Janson CG, Romanova LG, Leone P, Nan Z, Belur L, McIvor RS, Low WC. Comparison of Endovascular and Intraventricular Gene Therapy With Adeno-Associated Virus-a-L-Iduronidase for Hurler Disease. Neurosurgery. 2014 Jan; 74(1):99-111.
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Bjoraker KJ, Delaney K, Peters C, Krivit W, Shapiro EG. Long-term outcomes of adaptive functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with hematopoietic stem cell transplantation. J Dev Behav Pediatr. 2006 Aug; 27(4):290-6.
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