 Hypophosphatasia
"Hypophosphatasia" 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.
A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)
| Descriptor ID |
D007014
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| MeSH Number(s) |
C16.320.565.618.482 C18.452.648.618.482
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Hypophosphatasia".
Below are MeSH descriptors whose meaning is more specific than "Hypophosphatasia".
This graph shows the total number of publications written about "Hypophosphatasia" by people in UAMS Profiles by year, and whether "Hypophosphatasia" 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 |
|---|
| 2022 | 1 | 0 | 1 | | 2019 | 1 | 0 | 1 | | 2018 | 1 | 0 | 1 | | 2012 | 1 | 0 | 1 |
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Below are the most recent publications written about "Hypophosphatasia" by people in Profiles over the past ten years.
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Mohamed FF, Chavez MB, Huggins S, Bertels J, Falck A, Suva LJ, Foster BL, Gaddy D. Dentoalveolar Defects of Hypophosphatasia are Recapitulated in a Sheep Knock-In Model. J Bone Miner Res. 2022 10; 37(10):2005-2017.
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Szabo SM, Tomazos IC, Petryk A, Powell LC, Donato BMK, Zarate YA, Tiulpakov A, Martos-Moreno G?. Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review. Orphanet J Rare Dis. 2019 04 25; 14(1):85.
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Williams DK, Pinz?n C, Huggins S, Pryor JH, Falck A, Herman F, Oldeschulte J, Chavez MB, Foster BL, White SH, Westhusin ME, Suva LJ, Long CR, Gaddy D. Genetic engineering a large animal model of human hypophosphatasia in sheep. Sci Rep. 2018 11 16; 8(1):16945.
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