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Page 1
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM. Lorenz-Depiereux B, et al. Among authors: schnabel d. Am J Hum Genet. 2006 Feb;78(2):193-201. doi: 10.1086/499410. Epub 2005 Dec 9. Am J Hum Genet. 2006. PMID: 16358215 Free PMC article.
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.
Rutsch F, Böyer P, Nitschke Y, Ruf N, Lorenz-Depierieux B, Wittkampf T, Weissen-Plenz G, Fischer RJ, Mughal Z, Gregory JW, Davies JH, Loirat C, Strom TM, Schnabel D, Nürnberg P, Terkeltaub R; GACI Study Group. Rutsch F, et al. Among authors: schnabel d. Circ Cardiovasc Genet. 2008 Dec;1(2):133-40. doi: 10.1161/CIRCGENETICS.108.797704. Circ Cardiovasc Genet. 2008. PMID: 20016754 Free PMC article.
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante AS, Raskin S, Schnabel D, Wehner LE, Kratz CP, Horn D, Kutsche K. Zenker M, et al. Among authors: schnabel d. J Med Genet. 2007 Feb;44(2):131-5. doi: 10.1136/jmg.2006.046300. Epub 2006 Oct 20. J Med Genet. 2007. PMID: 17056636 Free PMC article.
Age-related stature and linear body segments in children with X-linked hypophosphatemic rickets.
Zivičnjak M, Schnabel D, Billing H, Staude H, Filler G, Querfeld U, Schumacher M, Pyper A, Schröder C, Brämswig J, Haffner D; Hypophosphatemic Rickets Study Group of Arbeitsgemeinschaft für Pädiatrische Endokrinologie and Gesellschaft für Pädiatrische Nephrologie. Zivičnjak M, et al. Among authors: schnabel d. Pediatr Nephrol. 2011 Feb;26(2):223-31. doi: 10.1007/s00467-010-1705-9. Epub 2010 Dec 1. Pediatr Nephrol. 2011. PMID: 21120538
Rickets guidance: part II-management.
Haffner D, Leifheit-Nestler M, Grund A, Schnabel D. Haffner D, et al. Among authors: schnabel d. Pediatr Nephrol. 2022 Oct;37(10):2289-2302. doi: 10.1007/s00467-022-05505-5. Epub 2022 Mar 29. Pediatr Nephrol. 2022. PMID: 35352187 Free PMC article.
Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets.
Meyerhoff N, Haffner D, Staude H, Wühl E, Marx M, Beetz R, Querfeld U, Holder M, Billing H, Rabl W, Schröder C, Hiort O, Brämswig JH, Richter-Unruh A, Schnabel D, Živičnjak M; Hypophosphatemic Rickets Study Group of the “Deutsche Gesellschaft für Kinderendokrinologie und -diabetologie” and “Gesellschaft für Pädiatrische Nephrologie”. Meyerhoff N, et al. Among authors: schnabel d. Pediatr Nephrol. 2018 Mar;33(3):447-456. doi: 10.1007/s00467-017-3820-3. Epub 2017 Oct 20. Pediatr Nephrol. 2018. PMID: 29058153 Clinical Trial.
Three-year growth hormone treatment in short children with X-linked hypophosphatemic rickets: effects on linear growth and body disproportion.
Živičnjak M, Schnabel D, Staude H, Even G, Marx M, Beetz R, Holder M, Billing H, Fischer DC, Rabl W, Schumacher M, Hiort O, Haffner D; Hypophosphatemic Rickets Study Group of the Arbeitsgemeinschaft für Pädiatrische Endokrinologie and Gesellschaft für Pädiatrische Nephrologie. Živičnjak M, et al. Among authors: schnabel d. J Clin Endocrinol Metab. 2011 Dec;96(12):E2097-105. doi: 10.1210/jc.2011-0399. Epub 2011 Oct 12. J Clin Endocrinol Metab. 2011. PMID: 21994957 Clinical Trial.
167 results