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 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
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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 | 2010 | 1 | 0 | 1 | 2013 | 1 | 0 | 1 | 2016 | 1 | 0 | 1 | 2017 | 1 | 0 | 1 | 2019 | 3 | 0 | 3 | 2023 | 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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Miller BS, Fung EB, White KK, Lund TC, Harmatz P, Orchard PJ, Whitley CB, Polgreen LE. Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10-year prospective study. J Inherit Metab Dis. 2023 07; 46(4):695-704.
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Chen AH, Harmatz P, Nestrasil I, Eisengart JB, King KE, Rudser K, Kaizer AM, Svatkova A, Wakumoto A, Le SQ, Madden J, Young S, Zhang H, Polgreen LE, Dickson PI. Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study. Mol Genet Metab. 2020 02; 129(2):80-90.
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Eisengart JB, Pierpont EI, Kaizer AM, Rudser KD, King KE, Pasquali M, Polgreen LE, Dickson PI, Le SQ, Miller WP, Tolar J, Orchard PJ, Lund TC. Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes. Genet Med. 2019 11; 21(11):2552-2560.
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Conner T, Cook F, Fernandez V, Rascati K, Rangel-Miller V. An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States. Orphanet J Rare Dis. 2019 02 18; 14(1):48.
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Kuiper GA, Langereis EJ, Breyer S, Carbone M, Castelein RM, Eastwood DM, Garin C, Guffon N, van Hasselt PM, Hensman P, Jones SA, Kenis V, Kruyt M, van der Lee JH, Mackenzie WG, Orchard PJ, Oxborrow N, Parini R, Robinson A, Schubert Hjalmarsson E, White KK, Wijburg FA. Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure. Orphanet J Rare Dis. 2019 01 18; 14(1):17.
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Rodgers NJ, Kaizer AM, Miller WP, Rudser KD, Orchard PJ, Braunlin EA. Mortality after hematopoietic stem cell transplantation for severe mucopolysaccharidosis type I: the 30-year University of Minnesota experience. J Inherit Metab Dis. 2017 03; 40(2):271-280.
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Langereis EJ, den Os MM, Breen C, Jones SA, Knaven OC, Mercer J, Miller WP, Kelly PM, Kennedy J, Ketterl TG, O'Meara A, Orchard PJ, Lund TC, van Rijn RR, Sakkers RJ, White KK, Wijburg FA. Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation. J Bone Joint Surg Am. 2016 Mar 02; 98(5):386-95.
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Langereis EJ, Borgo A, Crushell E, Harmatz PR, van Hasselt PM, Jones SA, Kelly PM, Lampe C, van der Lee JH, Odent T, Sakkers R, Scarpa M, Schafroth MU, Struijs PA, Valayannopoulos V, White KK, Wijburg FA. Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure. Orphanet J Rare Dis. 2013 Oct 03; 8:155.
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Thomas JA, Beck M, Clarke JT, Cox GF. Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. J Inherit Metab Dis. 2010 Aug; 33(4):421-7.
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Thomas JA, Jacobs S, Kierstein J, Van Hove J. Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome. J Inherit Metab Dis. 2006 Dec; 29(6):762.
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