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The adult galactosemic phenotype.
Waisbren SE, Potter NL, Gordon CM, Green RC, Greenstein P, Gubbels CS, Rubio-Gozalbo E, Schomer D, Welt C, Anastasoaie V, D'Anna K, Gentile J, Guo CY, Hecht L, Jackson R, Jansma BM, Li Y, Lip V, Miller DT, Murray M, Power L, Quinn N, Rohr F, Shen Y, Skinder-Meredith A, Timmers I, Tunick R, Wessel A, Wu BL, Levy H, Elsas L, Berry GT. Waisbren SE, et al. J Inherit Metab Dis. 2012 Mar;35(2):279-86. doi: 10.1007/s10545-011-9372-y. Epub 2011 Jul 21. J Inherit Metab Dis. 2012. PMID: 21779791 Free PMC article.
The molecular biology of galactosemia.
Elsas LJ 2nd, Lai K. Elsas LJ 2nd, et al. Genet Med. 1998 Nov-Dec;1(1):40-8. doi: 10.1097/00125817-199811000-00009. Genet Med. 1998. PMID: 11261429 Free article. Review.
A molecular approach to galactosemia.
Elsas LJ 2nd, Langley S, Paulk EM, Hjelm LN, Dembure PP. Elsas LJ 2nd, et al. Eur J Pediatr. 1995;154(7 Suppl 2):S21-7. doi: 10.1007/BF02143798. Eur J Pediatr. 1995. PMID: 7671959
Prevention of a molecular misdiagnosis in galactosemia.
Barbouth D, Slepak T, Klapper H, Lai K, Elsas LJ. Barbouth D, et al. Among authors: elsas lj. Genet Med. 2006 Mar;8(3):178-82. doi: 10.1097/01.gim.0000204019.54509.40. Genet Med. 2006. PMID: 16540753 Free article.
176 results