-
1
-
-
0019309811
-
Inborn errors of molybdenum metabolism: Combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor
-
Johnson, J.L.; Waud, W.R.; Rajagopalan, K.V.; Duran, M.; Beemer, F.A.; Wadman, S.K. Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor. Proc. Natl. Acad. Sci. USA 1980, 77, 3715-3719.
-
(1980)
Proc. Natl. Acad. Sci. USA
, vol.77
, pp. 3715-3719
-
-
Johnson, J.L.1
Waud, W.R.2
Rajagopalan, K.V.3
Duran, M.4
Beemer, F.A.5
Wadman, S.K.6
-
2
-
-
0018051652
-
Combined deficiency of xanthine oxidase and sulphite oxidase: A defect of molybdenum metabolism or transport?
-
Duran, M.; Beemer, F.A.; van de Heiden, C.; Korteland, J.; de Bree, P.K.; Brink, M.; Wadman, S.K.; Lombeck, I. Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport?. J. Inherit. Metab. Dis. 1978, 1, 175-178.
-
(1978)
J. Inherit. Metab. Dis.
, vol.1
, pp. 175-178
-
-
Duran, M.1
Beemer, F.A.2
Van De Heiden, C.3
Korteland, J.4
De Bree, P.K.5
Brink, M.6
Wadman, S.K.7
Lombeck, I.8
-
3
-
-
0031716129
-
Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency
-
Reiss, J.; Cohen, N.; Dorche, C.; Mandel, H.; Mendel, R.R.; Stallmeyer, B.; Zabot, M.T.; Dierks, T. Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. Nat. Genet. 1998, 20, 51-53.
-
(1998)
Nat. Genet.
, vol.20
, pp. 51-53
-
-
Reiss, J.1
Cohen, N.2
Dorche, C.3
Mandel, H.4
Mendel, R.R.5
Stallmeyer, B.6
Zabot, M.T.7
Dierks, T.8
-
4
-
-
0032436716
-
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A
-
Reiss, J.; Christensen, E.; Kurlemann, G.; Zabot, M.T.; Dorche, C. Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. Hum. Genet. 1998, 103, 639-644.
-
(1998)
Hum. Genet.
, vol.103
, pp. 639-644
-
-
Reiss, J.1
Christensen, E.2
Kurlemann, G.3
Zabot, M.T.4
Dorche, C.5
-
5
-
-
0033237812
-
Human molybdopterin synthase gene: Genomic structure and mutations in molybdenum cofactor deficiency type B
-
Reiss, J.; Dorche, C.; Stallmeyer, B.; Mendel, R.R.; Cohen, N.; Zabot, M.T. Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. Am. J. Hum. Genet. 1999, 64, 706-711.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 706-711
-
-
Reiss, J.1
Dorche, C.2
Stallmeyer, B.3
Mendel, R.R.4
Cohen, N.5
Zabot, M.T.6
-
6
-
-
0035935635
-
Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency
-
Johnson, J.L.; Coyne, K.E.; Rajagopalan, K.V.; Van Hove, J.L.; Mackay, M.; Pitt, J.; Boneh, A. Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. Am. J. Med. Genet. 2001, 104, 169-173.
-
(2001)
Am. J. Med. Genet.
, vol.104
, pp. 169-173
-
-
Johnson, J.L.1
Coyne, K.E.2
Rajagopalan, K.V.3
Van Hove, J.L.4
Mackay, M.5
Pitt, J.6
Boneh, A.7
-
7
-
-
0035166780
-
A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency
-
Reiss, J.; Gross-Hardt, S.; Christensen, E.; Schmidt, P.; Mendel, R.R.; Schwarz, G. A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. Am. J. Hum. Genet. 2001, 68, 208-213.
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 208-213
-
-
Reiss, J.1
Gross-Hardt, S.2
Christensen, E.3
Schmidt, P.4
Mendel, R.R.5
Schwarz, G.6
-
8
-
-
4444346402
-
Crystal structure of the S-adenosylmethionine-dependent enzyme MoaA and its implications for molybdenum cofactor deficiency in humans
-
Hanzelmann, P.; Schindelin, H. Crystal structure of the S-adenosylmethionine-dependent enzyme MoaA and its implications for molybdenum cofactor deficiency in humans. Proc. Natl. Acad. Sci. USA 2004, 101, 12870-12875.
-
(2004)
Proc. Natl. Acad. Sci. USA
, vol.101
, pp. 12870-12875
-
-
Hanzelmann, P.1
Schindelin, H.2
-
9
-
-
4444372513
-
Characterization of MOCS1A, an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis
-
Hanzelmann, P.; Hernandez, H.L.; Menzel, C.; Garcia-Serres, R.; Huynh, B.H.; Johnson, M.K.; Mendel, R.R.; Schindelin, H. Characterization of MOCS1A, an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis. J. Biol. Chem. 2004, 279, 34721-34732.
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 34721-34732
-
-
Hanzelmann, P.1
Hernandez, H.L.2
Menzel, C.3
Garcia-Serres, R.4
Huynh, B.H.5
Johnson, M.K.6
Mendel, R.R.7
Schindelin, H.8
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