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Quoted phrase not found in phrase index: "Hypophosphatemic nephrolithiasis/osteoporosis 1"
Page 1
Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.
Gordon RJ, Li D, Doyle D, Zaritsky J, Levine MA. Gordon RJ, et al. J Clin Endocrinol Metab. 2020 Jul 1;105(7):2392-400. doi: 10.1210/clinem/dgaa217. J Clin Endocrinol Metab. 2020. PMID: 32311027 Free PMC article.
CONTEXT: Hypophosphatemia and metabolic bone disease are associated with hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to biallelic mutations of SLC34A3 encoding the NPT2C sodium-phosphate cotransporter and nephrolithiasis/osteoporosis, …
CONTEXT: Hypophosphatemia and metabolic bone disease are associated with hereditary hypophosphatemic rickets with hypercalciuria (HHR …
High frequency of heterozygous rare variants of the SLC34A1 and SLC9A3R1 genes in patients with atypical femur fracture.
Marini F, Giusti F, Marasco E, Xumerle L, Kwiatkowska KM, Garagnani P, Biver E, Ferrari S, Iolascon G, Iantomasi T, Brandi ML. Marini F, et al. Eur J Endocrinol. 2023 Jan 10;188(1):lvad001. doi: 10.1093/ejendo/lvad001. Eur J Endocrinol. 2023. PMID: 36762943
RESULTS: We found a relatively high frequency (32.0%) of heterozygous rare variants inthe SLC34A1 and SLC9A3R1 genes, two genes whose heterozygous inactivating mutations have been respectively associated with autosomal dominant hypophosphatemic nephrolithiasis/os …
RESULTS: We found a relatively high frequency (32.0%) of heterozygous rare variants inthe SLC34A1 and SLC9A3R1 genes, two genes whose hetero …