Vascular Outcome in Patients With Homocystinuria due to Cystathionine β-Synthase Deficiency Treated Chronically: A Multicenter Observational Study
Yap, Sufin, Boers, Godfried H.J, Wilcken, Bridget, Wilcken, David E.L, Brenton, David P, Lee, Philip J, Walter, John H, Howard, Pamela M, Naughten, Eileen R
Published in Arteriosclerosis, thrombosis, and vascular biology (01.12.2001)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.12.2001)
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Neuroimaging findings in glutaric aciduria type 1
TWOMEY, Eilish L, NAUGHTEN, Eileen R, DONOGHUE, Veronica B, RYAN, Stephanie
Published in Pediatric radiology (01.12.2003)
Published in Pediatric radiology (01.12.2003)
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Diversity of cystathionine β-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion
Vyletal, Petr, Sokolová, Jitka, Cooper, David N., Kraus, Jan P., Krawczak, Michael, Pepe, Guglielmina, Rickards, Olga, Koch, Hans G., Linnebank, Michael, Kluijtmans, Leo A. J., Blom, Henk J., Boers, Godfried H. J., Gaustadnes, Mette, Skovby, Flemming, Wilcken, Bridget, Wilcken, David E. L., Andria, Generoso, Sebastio, Gianfranco, Naughten, Eileen R., Yap, Sufin, Ohura, Toshihiro, Pronicka, Ewa, Laszlo, Aranka, Kožich, Viktor
Published in Human mutation (01.03.2007)
Published in Human mutation (01.03.2007)
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Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy
Yap, S, Naughten, E R, Wilcken, B, Wilcken, D E, Boers, G H
Published in Seminars in thrombosis and hemostasis (2000)
Published in Seminars in thrombosis and hemostasis (2000)
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Congenital expression of prolidase defect in prolidase deficiency
NAUGHTEN, E. R, PROCTOR, S. P, LEVY, H. L, COULOMBE, J. T, AMPOLA, M. G
Published in Pediatric research (01.03.1984)
Published in Pediatric research (01.03.1984)
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Ocular complications in homocystinuria--early and late treated
Burke, J. P., O'Keefe, M., Bowell, R., Naughten, E. R.
Published in British journal of ophthalmology (01.06.1989)
Published in British journal of ophthalmology (01.06.1989)
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Ophthalmic findings in classical galactosemia. A screened population
BURKE, J. P, O'KEEFE, M, BOWELL, R, NAUGHTEN, E. R
Published in Journal of pediatric ophthalmology and strabismus (01.07.1989)
Published in Journal of pediatric ophthalmology and strabismus (01.07.1989)
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