"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.
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Year | Major Topic | Minor Topic | Total |
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2006 | 0 | 1 | 1 |
2012 | 2 | 0 | 2 |
2013 | 1 | 0 | 1 |
2020 | 1 | 0 | 1 |
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Below are the most recent publications written about "Hypophosphatasia" by people in Profiles.
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Sawamoto K, ?lvarez JV, Herre?o AM, Otero-Espinar FJ, Couce ML, Alm?ciga-D?az CJ, Tomatsu S. Bone-Specific Drug Delivery for Osteoporosis and Rare Skeletal Disorders. Curr Osteoporos Rep. 2020 10; 18(5):515-525.
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Oikawa H, Tomatsu S, Haupt B, Monta?o AM, Shimada T, Sly WS. Enzyme replacement therapy on hypophosphatasia mouse model. J Inherit Metab Dis. 2014 Mar; 37(2):309-317.
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Whyte MP, Greenberg CR, Salman NJ, Bober MB, McAlister WH, Wenkert D, Van Sickle BJ, Simmons JH, Edgar TS, Bauer ML, Hamdan MA, Bishop N, Lutz RE, McGinn M, Craig S, Moore JN, Taylor JW, Cleveland RH, Cranley WR, Lim R, Thacher TD, Mayhew JE, Downs M, Mill?n JL, Skrinar AM, Crine P, Landy H. Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med. 2012 Mar 08; 366(10):904-13.
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Rodriguez E, Bober MB, Davey L, Zamora A, Li Puma AB, Chidekel A, Shaffer TH. Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy. Pediatr Pulmonol. 2012 Sep; 47(9):917-22.
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Nishioka T, Tomatsu S, Gutierrez MA, Miyamoto K, Trandafirescu GG, Lopez PL, Grubb JH, Kanai R, Kobayashi H, Yamaguchi S, Gottesman GS, Cahill R, Noguchi A, Sly WS. Enhancement of drug delivery to bone: characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide. Mol Genet Metab. 2006 Jul; 88(3):244-55.