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pro vyhledávání: '"Amy Skinder-Meredith"'
Autor:
Yijun Li, Yiping Shen, Va Lip, Chao-Yu Guo, Susan E. Waisbren, Gerard T. Berry, David T. Miller, Catherine M. Gordon, Jennifer K. Gentile, Leah Hecht, Bai-Lin Wu, Inge Timmers, Estela Rubio-Gozalbo, Vera Anastasoaie, Donald L. Schomer, Frances Rohr, Nancy L. Potter, Nicolle Quinn, Amy Skinder-Meredith, Corrine K. Welt, Robert C. Green, Louis J. Elsas, Michael F. Murray, Harvey L. Levy, Patricia E. Greenstein, Bernadette M. Jansma, Roberta Jackson, Cynthia S. Gubbels, Kali D’Anna, Leslie Power, Ann Wessel, Rachel A. Tunick
Publikováno v:
Journal of Inherited Metabolic Disease, 32(2), 279-286. Wiley
BACKGROUND: Classic galactosemia is an autosomal recessive disorder due to galactose-1-phosphate uridyltransferase (GALT) deficiency. Newborn screening and early treatment do not completely prevent tremor, speech deficits, and diminished IQ in both s