Clinical Spectrum of Hereditary Hypophosphatemic Rickets With Hypercalciuria (HHRH)
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.4630
Abstract: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) represents an FGF23‐independent disease caused by biallelic variants in the solute carrier family 34‐member 3 (SLC34A3) gene. HHRH is characterized by chronic hypophosphatemia and an increased risk for nephrocalcinosis… read more here.
Keywords: hypercalciuria hhrh; slc34a3 variants; hereditary hypophosphatemic; rickets hypercalciuria ... See more keywords
Growth in height and body proportion from birth to adulthood in hereditary hypophosphatemic rickets: a retrospective cohort study
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Endocrinological Investigation"
DOI: 10.1007/s40618-022-01768-9
Abstract: Patients with hereditary hypophosphatemic rickets are short and disproportionate and very little information is available on segmental growth, but the body disproportion at adulthood leads us to think that the growth velocity of legs is… read more here.
Keywords: body; hypophosphatemic rickets; compliance; height ... See more keywords