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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: rosenblatt 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.
Inborn errors of cobalamin absorption and metabolism.
Watkins D, Rosenblatt DS. Watkins D, et al. Among authors: rosenblatt ds. 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
Vitamin B(12) and birth defects.
Li F, Watkins D, Rosenblatt DS. Li F, et al. Among authors: rosenblatt ds. 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.
Inherited defects of cobalamin metabolism.
Watkins D, Rosenblatt DS. Watkins D, et al. Among authors: rosenblatt ds. Vitam Horm. 2022;119:355-376. doi: 10.1016/bs.vh.2022.01.010. Epub 2022 Feb 21. Vitam Horm. 2022. PMID: 35337626
329 results