Tauroursodeoxycholic acid inhibits apoptosis induced by z alpha-1 antitrypsin via inhibition of badMILLER, Stanley D. W; GREENE, Catherine M; MCLEAN, Caitriona et al.Hepatology (Baltimore, Md.). 2007, Vol 46, Num 2, pp 496-503, issn 0270-9139, 8 p.Article

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5-aminolevulinic acid inhibits [³H]muscimol binding to human and rat brain synaptic membranesEMANUELLI, Tatiana; PAGEL, Fernanda W; ALVES, Leticia B et al.Neurochemical research. 2001, Vol 26, Num 2, pp 101-105, issn 0364-3190Article

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Abnormalities in cellular adhesion of neuroblastoma and fibroblast models of Lesch Nyhan syndromeSTACEY, N. C; MA, M. H. Y; DULEY, J. A et al.Neuroscience. 2000, Vol 98, Num 2, pp 397-401, issn 0306-4522Article

Guanidinoacetate methyltransferase (GAMT) deficiency : non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolismILAS, J; MÜHL, A; STÖCKLER-IPSIROGLU, S et al.Clinica chimica acta. 2000, Vol 290, Num 2, pp 179-188, issn 0009-8981Article

An unusual cause of leg ulcerationBANERJEE, D; GREY, J; HARDING, K. G et al.Postgraduate medical journal. 1999, Vol 75, Num 882, pp 247-248, issn 0032-5473Article

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Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformationBUIAKOVA, O. I; JIN XU; LUTSENKO, S et al.Human molecular genetics (Print). 1999, Vol 8, Num 9, pp 1665-1671, issn 0964-6906Article

Anion-exchange chromatography versus isoelectric focusing of transferrin in diagnosing the carbohydrate-deficient glycoprotein syndromeVREKEN, P; RUSCH, H; HUIJBEN, K et al.Journal of inherited metabolic disease. 1998, Vol 21, Num 4, pp 447-448, issn 0141-8955Article

Genetic variation in human serum albumin : a 313 Lys→Asn mutation in albumin Reading identified by PCR analysisSAVVA, D; BING LI; KRAGH-HANSEN, U et al.Clinica chimica acta. 1998, Vol 270, Num 2, pp 195-201, issn 0009-8981Article

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Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyriaMUSTAJOKI, S; PIHLAJA, H; AHOLA, H et al.Human genetics. 1998, Vol 102, Num 5, pp 541-548, issn 0340-6717Article

Molecular characterization of homozygous variegate porphyriaROBERTS, A. G; PUY, H; DAILEY, T. A et al.Human molecular genetics (Print). 1998, Vol 7, Num 12, pp 1921-1925, issn 0964-6906Article

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