X‐linked hypophosphatemic rickets: Description of seven new variants in patients followed up in reference hospitals in Rio de Janeiro
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DOI: 10.1002/mgg3.1941
Abstract: X‐linked hypophosphatemic rickets (XLHR) is a rare genetic disease, often delayed in diagnosis due to the low degree of suspicion and limited access to sophisticated diagnostic tools that confirm the diagnosis, such as genetic testing. read more here.
Keywords: new variants; rickets description; seven new; description seven ... See more keywords
Prospective Analysis of Muscle Adiposity in Children With X-linked Hypophosphatemic Rickets vs Control Children
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DOI: 10.1210/jendso/bvac135
Abstract: Abstract Context Children with X-linked hypophosphatemic (XLH) rickets have muscle weakness that severely impairs their function. Intermuscular and intramuscular adipose tissue (IMAT and intraMAT, respectively) may contribute to this muscle weakness. Objective This work aimed… read more here.
Keywords: xlh children; muscle; children linked; linked hypophosphatemic ... See more keywords