 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 this website 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 |
|---|
| 2017 | 1 | 0 | 1 | | 2018 | 2 | 0 | 2 | | 2019 | 1 | 0 | 1 | | 2020 | 1 | 0 | 1 | | 2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "Hypophosphatasia" by people in Profiles.
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Kishnani PS, Del Angel G, Zhou S, Rush ET. Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa. Mol Genet Metab. 2021 05; 133(1):113-121.
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Simmons JH, Rush ET, Petryk A, Zhou S, Martos-Moreno GÁ. Dual X-ray absorptiometry has limited utility in detecting bone pathology in children with hypophosphatasia: A pooled post hoc analysis of asfotase alfa clinical trial data. Bone. 2020 08; 137:115413.
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Rush ET, Moseley S, Petryk A. Burden of disease in pediatric patients with hypophosphatasia: results from the HPP Impact Patient Survey and the HPP Outcomes Study Telephone interview. Orphanet J Rare Dis. 2019 08 16; 14(1):201.
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Rush ET. Childhood hypophosphatasia: to treat or not to treat. Orphanet J Rare Dis. 2018 07 16; 13(1):116.
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Sofronescu AG, Ross M, Rush E, Goldner W. Spurious testosterone laboratory results in a patient taking synthetic alkaline phosphatase (asfotase alfa). Clin Biochem. 2018 Aug; 58:118-121.
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Kishnani PS, Rush ET, Arundel P, Bishop N, Dahir K, Fraser W, Harmatz P, Linglart A, Munns CF, Nunes ME, Saal HM, Seefried L, Ozono K. Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. Mol Genet Metab. 2017 09; 122(1-2):4-17.
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