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Cobalamin D Deficiency Identified Through Newborn Screening.
Abu-El-Haija A, Mendelsohn BA, Duncan JL, Moore AT, Glenn OA, Weisiger K, Gallagher RC. Abu-El-Haija A, et al. Among authors: weisiger k. JIMD Rep. 2019;44:73-77. doi: 10.1007/8904_2018_126. Epub 2018 Aug 11. JIMD Rep. 2019. PMID: 30097992 Free PMC article.
Marinesco-Sjögren syndrome in a male with mild dysmorphism.
Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E. Slavotinek A, et al. Among authors: weisiger k. Am J Med Genet A. 2005 Mar 1;133A(2):197-201. doi: 10.1002/ajmg.a.30504. Am J Med Genet A. 2005. PMID: 15633176 Review.
Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.
Fernández-Guerra P, Navarrete R, Weisiger K, Desviat LR, Packman S, Ugarte M, Rodríguez-Pombo P. Fernández-Guerra P, et al. Among authors: weisiger k. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S191-8. doi: 10.1007/s10545-010-9077-7. Epub 2010 Apr 30. J Inherit Metab Dis. 2010. PMID: 20431954