"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.
- Mucopolysaccharidosis I
- Mucopolysaccharidosis Is
- Mucopolysaccharidosis Type I
- Mucopolysaccharidosis 1
- Hurler Syndrome
- Hurler's Disease
- Disease, Hurler's
- Hurler's Syndrome
- Syndrome, Hurler's
- Gargoylism, Hurler Syndrome
- Hurler Syndrome Gargoylism
- Mucopolysaccharidosis Type Ih
- Mucopolysaccharidosis Type Ihs
- Type Ih, Mucopolysaccharidosis
- Type Ihs, Mucopolysaccharidosis
- Hurler Disease
- Pfaundler-Hurler Syndrome
- Scheie Syndrome
- Scheie's Syndrome
- Syndrome, Scheie's
- Mucopolysaccharidosis Type Is
- Mucopolysaccharidosis I-S
- Mucopolysaccharidosis I S
- Mucopolysaccharidosis V
- Mucopolysaccharidosis 5
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.
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Below are the most recent publications written about "Mucopolysaccharidosis I" by people in Profiles.
Endogenous heparan sulfate and heparin modulate bone morphogenetic protein-4 signaling and activity. Am J Physiol Cell Physiol. 2008 Jun; 294(6):C1387-97.