"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".
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