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Study Findings from Houston Methodist Hospital Provide New Insights into Hypophosphatasia (A Case of Hypophosphatasia With Normal Alkaline Phosphatase Levels).
- Source :
- Genomics & Genetics Weekly; 4/5/2024, p1863-1863, 1p
- Publication Year :
- 2024
-
Abstract
- A recent study conducted at Houston Methodist Hospital has provided new insights into hypophosphatasia (HPP), a rare disease associated with low serum alkaline phosphatase (ALP) activity. The study presented a case of a 36-year-old woman with normal ALP levels but diagnosed with HPP based on bone-specific ALP levels and genetic testing. This case challenges the current diagnostic approach to HPP, which primarily relies on total ALP levels, and suggests the need for further investigation into the diagnostic utility of ALP and bone-specific ALP. The study was published in AACE Clinical Case Reports and can be accessed for free through the provided link. [Extracted from the article]
Details
- Language :
- English
- ISSN :
- 15316467
- Database :
- Supplemental Index
- Journal :
- Genomics & Genetics Weekly
- Publication Type :
- Periodical
- Accession number :
- 176308549