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First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future.
Kleta R, Kaskel F, Dohil R, Goodyer P, Guay-Woodford LM, Harms E, Ingelfinger JR, Koch VH, Langman CB, Leonard MB, Mannon RB, Sarwal M, Schneider JA, Skovby F, Sonies BC, Thoene JG, Trauner DA, Gahl WA; NIH Office of Rare Diseases. Kleta R, et al. Among authors: skovby f. Pediatr Nephrol. 2005 Apr;20(4):452-4. doi: 10.1007/s00467-004-1777-5. Epub 2005 Jan 27. Pediatr Nephrol. 2005. PMID: 15747161 Review. No abstract available.
Cysteamine toxicity in patients with cystinosis.
Besouw MT, Bowker R, Dutertre JP, Emma F, Gahl WA, Greco M, Lilien MR, McKiernan J, Nobili F, Schneider JA, Skovby F, van den Heuvel LP, Van't Hoff WG, Levtchenko EN. Besouw MT, et al. Among authors: skovby f. J Pediatr. 2011 Dec;159(6):1004-11. doi: 10.1016/j.jpeds.2011.05.057. Epub 2011 Jul 23. J Pediatr. 2011. PMID: 21784456
Copper deficiency in patients with cystinosis with cysteamine toxicity.
Besouw MT, Schneider J, Janssen MC, Greco M, Emma F, Cornelissen EA, Desmet K, Skovby F, Nobili F, Lilien MR, De Paepe A, Malfait F, Symoens S, van den Heuvel LP, Levtchenko EN. Besouw MT, et al. Among authors: skovby f. J Pediatr. 2013 Sep;163(3):754-60. doi: 10.1016/j.jpeds.2013.03.078. Epub 2013 May 4. J Pediatr. 2013. PMID: 23651769
Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.
Lund AM, Hougaard DM, Simonsen H, Andresen BS, Christensen M, Dunø M, Skogstrand K, Olsen RK, Jensen UG, Cohen A, Larsen N, Saugmann-Jensen P, Gregersen N, Brandt NJ, Christensen E, Skovby F, Nørgaard-Pedersen B. Lund AM, et al. Among authors: skovby f. Mol Genet Metab. 2012 Nov;107(3):281-93. doi: 10.1016/j.ymgme.2012.06.006. Epub 2012 Jun 21. Mol Genet Metab. 2012. PMID: 22795865
MCAD deficiency in Denmark.
Andresen BS, Lund AM, Hougaard DM, Christensen E, Gahrn B, Christensen M, Bross P, Vested A, Simonsen H, Skogstrand K, Olpin S, Brandt NJ, Skovby F, Nørgaard-Pedersen B, Gregersen N. Andresen BS, et al. Among authors: skovby f. Mol Genet Metab. 2012 Jun;106(2):175-88. doi: 10.1016/j.ymgme.2012.03.018. Epub 2012 Apr 4. Mol Genet Metab. 2012. PMID: 22542437
165 results