 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 |
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| 2017 | 1 | 0 | 1 | | 2018 | 2 | 0 | 2 | | 2019 | 1 | 0 | 1 | | 2020 | 1 | 0 | 1 | | 2021 | 1 | 0 | 1 | | 2023 | 4 | 0 | 4 | | 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Hypophosphatasia" by people in Profiles.
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Dahir KM, Rush ET, Diaz-Mendoza S, Kishnani PS. A Delphi panel to build consensus on assessing disease severity and disease progression in adult patients with hypophosphatasia in the United States. J Endocrinol Invest. 2024 Jun; 47(6):1487-1497.
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Khan AA, Brandi ML, Rush ET, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Linglart A, M'Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Roux C, Seefried L, Simmons JH, Starling SR, Ward LM, Yao L, Brignardello-Petersen R, Lewiecki EM. Hypophosphatasia?diagnosis: current state of the art and proposed diagnostic criteria for children and adults. Osteoporos Int. 2024 Mar; 35(3):431-438.
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Brandi ML, Khan AA, Rush ET, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Lewiecki EM, Linglart A, M'Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Seefried L, Simmons JH, Starling SR, Ward LM, Yao L, Brignardello-Petersen R, Roux C. The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance. Osteoporos Int. 2024 Mar; 35(3):439-449.
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Rush E, Brandi ML, Khan A, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Lewiecki EM, Linglart A, M'Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Roux C, Seefried L, Starling SR, Ward L, Yao L, Brignardello-Petersen R, Simmons JH. Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group. Osteoporos Int. 2024 Jan; 35(1):1-10.
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Farman MR, Rehder C, Malli T, Rockman-Greenberg C, Dahir K, Martos-Moreno G?, Linglart A, Ozono K, Seefried L, Del Angel G, Webersinke G, Barbazza F, John LK, Delana Mudiyanselage SMA, H?gler F, Nading EB, Huggins E, Rush ET, El-Gazzar A, Kishnani PS, H?gler W. The Global ALPL gene variant classification project: Dedicated to deciphering variants. Bone. 2024 01; 178:116947.
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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 G?. 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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