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Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking.
Stockler S, Corvera S, Lambright D, Fogarty K, Nosova E, Leonard D, Steinfeld R, Ackerley C, Shyr C, Au N, Selby K, van Allen M, Vallance H, Wevers R, Watkins D, Rosenblatt D, Ross CJ, Conibear E, Wasserman W, van Karnebeek C. Stockler S, et al. Among authors: watkins d. Orphanet J Rare Dis. 2014 Sep 20;9:141. doi: 10.1186/s13023-014-0141-5. Orphanet J Rare Dis. 2014. PMID: 25233840 Free PMC article.
Update on cobalamin, folate, and homocysteine.
Carmel R, Green R, Rosenblatt DS, Watkins D. Carmel R, et al. Among authors: watkins d. Hematology Am Soc Hematol Educ Program. 2003:62-81. doi: 10.1182/asheducation-2003.1.62. Hematology Am Soc Hematol Educ Program. 2003. PMID: 14633777 Review.
Vitamin B(12) and birth defects.
Li F, Watkins D, Rosenblatt DS. Li F, et al. Among authors: watkins d. Mol Genet Metab. 2009 Sep-Oct;98(1-2):166-72. doi: 10.1016/j.ymgme.2009.06.004. Epub 2009 Jun 11. Mol Genet Metab. 2009. PMID: 19586788 Review.
Inborn errors of cobalamin absorption and metabolism.
Watkins D, Rosenblatt DS. Watkins D, et al. Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):33-44. doi: 10.1002/ajmg.c.30288. Epub 2011 Feb 10. Am J Med Genet C Semin Med Genet. 2011. PMID: 21312325
1,325 results