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2 "Trypsin cleavage of human cys-tathionine beta-synthase into an evolutionarily conserved ac-tive core" 355 : 222-232, 1998
3 "The structure of a domain common to arch-aebacteria and the homocystinuria disease protein" 22 : 12-13, 1997
4 "The natural history of vascular disease in homocystinuria and the effects of treatment" 20 : 295-300, 1997
5 "The natural history of homocystinuria due to cystathionine -synthase deficiency"
6 "The Metabolic and Molecular Bases of Inherited Disease" McGraw-Hill 2007-2056, 2001
7 "Repeat transduction in the mouse lung by using adeno- asso-ciated virus vectors with different serotypes" 74 : 1524-1532, 2000
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9 "Recombinant adeno-as-sociated virus type 2, 4, and 5 vectors: transduction of variant 660" 38 (38): 652-661, 2006
10 "Phase I trial of intranasal and endobronchial administration of a recombinant adeno-associated virus serotype 2 -CFTR vector in adult cystic fibrosis patients" guggi (guggi): 1079-88,
1 "cell types and regions in the mammalian central nervous system" 97 : 3428-3432, 2000
2 "Trypsin cleavage of human cys-tathionine beta-synthase into an evolutionarily conserved ac-tive core" 355 : 222-232, 1998
3 "The structure of a domain common to arch-aebacteria and the homocystinuria disease protein" 22 : 12-13, 1997
4 "The natural history of vascular disease in homocystinuria and the effects of treatment" 20 : 295-300, 1997
5 "The natural history of homocystinuria due to cystathionine -synthase deficiency"
6 "The Metabolic and Molecular Bases of Inherited Disease" McGraw-Hill 2007-2056, 2001
7 "Repeat transduction in the mouse lung by using adeno- asso-ciated virus vectors with different serotypes" 74 : 1524-1532, 2000
8 "Regulation of human cystathionine beta-synthase by S-ad-enosyl-L-methionine evidence for two catalytically active con-formations involving an autoinhibitory domain in the C-terminal region" 400 : 10625-10633, 2001
9 "Recombinant adeno-as-sociated virus type 2, 4, and 5 vectors: transduction of variant 660" 38 (38): 652-661, 2006
10 "Phase I trial of intranasal and endobronchial administration of a recombinant adeno-associated virus serotype 2 -CFTR vector in adult cystic fibrosis patients" guggi (guggi): 1079-88,
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12 "Pathways and regulation of homocysteine me-tabolism in mammals" 26 : 219-225, 2000
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15 "Long-term enzymatic and phenotypic correction in the phenylketonuria mouse mod-el by adeno-associated virus vector mediated gene transfer." 56 : 278-284, 2004
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17 "Hyperhomocysteinemia-an emerging and important risk factor for thromboembolic and cardiovascular disease" 106 : 709-722, 1996
18 "Heterozygosity for homo-cystinuria in premature peripheral and cerebral occlusive arte-rial disease" 709-15,
19 "Expression of the cystathionine beta synthase gene during mouse development and immunolocaliza-tion in adult brain" 51 : 363-371, 2003
20 "Evidence for gene transfer and expression of factor IX in hemo-philia B patients treated with an AAV vector" 24 : 257-261, 2000
21 "Elevated plasma von Willebrand factor in a murine model of severe hyperhomo-cysteinemia" 90 : 362-364, 2003
22 "Effects of betaine in a murine model of mild cystathionine-beta-synthase deficiency" 53 : 594-599, 2004
23 "Determination of free and total homocysteine in human plasma by high-performance liquid chromatography with fluorescence detection" 43-52, jchromatogr1987;422
24 "Deletion muta-genesis of human cystathionine beta-synthase Impact on ac-tivity" 277 : 48386-48394, 2002
25 "Cystathionine beta-syn-thase mutations in homocystinuria" 13 : 362-375, 1999
26 "Correction of disease-causing CBS muta-tions in yeast" 13 : 91-93, 1998
27 "Cellular redox state and endothelial dysfunction in mildly hyperhomocysteinemic cystathionine beta-synthase-defi-cient mice" 22 : 34-41, 2002
28 "Altered gene expression in liver from a murine model of hyperhomo-cysteinemia" 278 : 31504-31511, 2003
29 "Adeno-associated virus-mediated gene therapy" 1 : 166-175, 1999
30 "Adeno-associated viral vectors for gene transfer and gene therapy" 380 : 61322-, 1999
31 "Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple or-gans of Fabry mice" 98 : 2676-2681, 2001
32 "AV vector gene therapy in a mouse model for homocystinuria 661Wilcken DE Homocystinuria due to cystathionine beta-synthase deficiency-the effects of betaine treatment in pyridoxine-responsive patients" 1115-21, metabolism1985;34
33 "AAV-based gene transfer" 5 : 367-375, 2003
34 "AAV- mediated factor IX gene transfer to skeletal muscle in patients with severe hemophilia B" 101 : 2963-2972, 2003