| Autor: |
Gurevich, Evgenia, Hershkovitz, Eli, Yarza, Shaked, Landau, Daniel |
| Předmět: |
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| Zdroj: |
Acta Paediatrica; Apr2020, Vol. 109 Issue 4, p851-852, 2p |
| Abstrakt: |
Hypophosphatasia (HPP) (OMIM #241510) is a rare inherited bone disorder caused by inactivating mutations in tissue-nonspecific alkaline phosphatase (ALPL) gene resulting in low enzyme (ALP) activity and accumulation of enzyme's substrates pyrophosphate and pyridoxal phosphate (PLP). The diagnosis of HPP is based on low serum ALP adjusted for age and sex, elevated PLP and urinary phosphoetanolamine (PEA) together with radiologic features, usually confirmed by genetic investigation. Retrospective screening of the Soroka University Medical Center (SUMC) central biochemistry laboratory (which serves also all patients insured by the Clalit Health services insurance company) database was performed, looking for serum ALP results over a 15-year period (January 2002-December 2016). [Extracted from the article] |
| Databáze: |
Complementary Index |
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