Lista de

enzyme deficiency
10
"Non frequent Porphyrias in the Argentinean population " (2006) Melito, V.A.; Rossetti, M.V.; Parera, V.E.; Batlle, A. Revista Argentina de Dermatologia. 87(4):248-263
"Pathogen DNA as target for host-generated oxidative stress: Role for repair of bacterial DNA damage in Helicobacter pylori colonization" (2003) O'Rourke, E.J.;Chevalier, C.;Pinto, A.V. (...)Radicella, J.P. Proceedings of the National Academy of Sciences of the United States of America. 100(5):2789-2794
"Classical and nonclassical 21-hydroxylase deficiency: A molecular study of Argentine patients" (2002) Dain, L.B.;Buzzalino, N.D.;Oneto, A. (...)Alba, L.G. Clinical Endocrinology. 56(2):239-245
"Porphyrin biosynthesis intermediates are not regulating δ-aminolevulinic acid transport in Saccharomyces cerevisiae" (2000) Moretti, M.B.; Garcia, S.C.; Batlle, A. Biochemical and Biophysical Research Communications. 272(3):946-950
"Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients" (1998) Montfort, M.;Vilageliu, L.;Garcia-Giralt, N. (...)Grinberg, D. Human Mutation. 12(4):274-279
"Severe hemorrhagic tendency in heterozygous α2-antiplasmin deficiency" (1985) Kordich, L.; Feldman, L.; Porterie, P.; Lago, O. Thrombosis Research. 40(5):645-651
"Biosynthesis of porphyrins from precursors in normal subjects and patients with porphyria " (1979) Battle delC., A.M.; Wider De Xifra, E.A.; Stella, A.M. Revista Argentina de Dermatologia. 60(181):101-105
"Characterization of Neurospora crassa mutant strains deficient in adenylate cyclase activity" (1977) Flawiá, M.M.; Terenzi, H.F.; Torres, H.N. Archives of Biochemistry and Biophysics. 180(2):334-342