"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
|
| 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
|
| Concept/Terms |
Mucopolysaccharidosis I- Mucopolysaccharidosis I
- Mucopolysaccharidosis Is
- Mucopolysaccharidosis Type I
- Mucopolysaccharidosis 1
- Lipochondrodystrophy
- Lipochondrodystrophies
Hurler Syndrome- Hurler Syndrome
- Hurler's Disease
- Disease, Hurler's
- Hurler's Syndrome
- Syndrome, Hurler's
- Gargoylism
- Gargoylisms
- 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 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.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2001 | 1 | 0 | 1 |
| 2003 | 1 | 0 | 1 |
| 2004 | 0 | 1 | 1 |
| 2005 | 1 | 0 | 1 |
| 2009 | 1 | 0 | 1 |
| 2010 | 3 | 0 | 3 |
| 2011 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2013 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
| 2016 | 3 | 0 | 3 |
| 2017 | 0 | 1 | 1 |
| 2019 | 3 | 0 | 3 |
| 2020 | 1 | 0 | 1 |
| 2022 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Mucopolysaccharidosis I" by people in Profiles.
-
Contribution of the innate and adaptive immune systems to aortic dilation in murine mucopolysaccharidosis type I. Mol Genet Metab. 2022 03; 135(3):193-205.
-
Myelin and Lipid Composition of the Corpus Callosum in Mucopolysaccharidosis Type I Mice. Lipids. 2020 11; 55(6):627-637.
-
Post-transplant laronidase augmentation for children with Hurler syndrome: biochemical outcomes. Sci Rep. 2019 Oct 01; 9(1):14105.
-
Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation. Pediatr Res. 2020 01; 87(1):104-111.
-
Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes. Genet Med. 2019 11; 21(11):2552-2560.
-
Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis. Hum Mol Genet. 2017 10 01; 26(19):3837-3849.
-
Angiotensin receptor blockade mediated amelioration of mucopolysaccharidosis type I cardiac and craniofacial pathology. J Inherit Metab Dis. 2017 03; 40(2):281-289.
-
A novel explanation of corneal clouding in a bone marrow transplant-treated patient with Hurler syndrome. Exp Eye Res. 2016 07; 148:83-89.
-
Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres. Mol Genet Metab. 2016 Mar; 117(3):373-7.
-
Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study. Blood. 2015 Mar 26; 125(13):2164-72.