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Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
J Am Soc Nephrol. 2016 Feb;27(2):604-14. doi: 10.1681/ASN.2014101025. Epub 2015 Jun 5.
J Am Soc Nephrol. 2016.
PMID: 26047794
Free PMC article.
Disease course and treatment effects of a JAK inhibitor in a patient with CANDLE syndrome.
Boyadzhiev M, Marinov L, Boyadzhiev V, Iotova V, Aksentijevich I, Hambleton S.
Boyadzhiev M, et al. Among authors: boyadzhiev v.
Pediatr Rheumatol Online J. 2019 May 2;17(1):19. doi: 10.1186/s12969-019-0322-9.
Pediatr Rheumatol Online J. 2019.
PMID: 31046790
Free PMC article.
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Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.
Habeb AM, Flanagan SE, Zulali MA, Abdullah MA, Pomahačová R, Boyadzhiev V, Colindres LE, Godoy GV, Vasanthi T, Al Saif R, Setoodeh A, Haghighi A, Haghighi A, Shaalan Y; International Neonatal Diabetes Consortium; Hattersley AT, Ellard S, De Franco E.
Habeb AM, et al. Among authors: boyadzhiev v.
Diabetologia. 2018 May;61(5):1027-1036. doi: 10.1007/s00125-018-4554-x. Epub 2018 Feb 15.
Diabetologia. 2018.
PMID: 29450569
Free PMC article.
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