-
1
-
-
0002451768
-
Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency
-
Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds) McGraw-Hill, New York
-
Johnson, J.L. and Duran, M. (2001) Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. In Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, pp. 3163-3177.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3163-3177
-
-
Johnson, J.L.1
Duran, M.2
-
2
-
-
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. and Dierks, T. (1998) Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. Nat. Genet., 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
-
3
-
-
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. and Dorche, C (1998) Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. Hum. Genet., 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 C5
-
4
-
-
0033237812
-
Human molybdopterin synthase gene: Genomic structure and mutations in molybdenum cofactor deficiency type B
-
Reiss, J., Cohen, N., Stallmeyer, B., Mendel, R.R. and Dorche, C. (1999) Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. Am. J. Hum. Genet., 64, 706-711.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 706-711
-
-
Reiss, J.1
Cohen, N.2
Stallmeyer, B.3
Mendel, R.R.4
Dorche, C.5
-
5
-
-
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.K., Mackay, M., Pitt, J. and Boneh A. (2001) Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. Am. J. Med. Genet., 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.K.4
Mackay, M.5
Pitt, J.6
Boneh, A.7
-
6
-
-
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, R, Mendel, R.R. and Schwarz, G. (2001) A mutation in the gene for the neurotransmitter receptor-clustering protein Gephyrin causes a novel form of molybdenum cofactor deficiency. Am. J. Hum. Genet., 68, 208-213.
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 208-213
-
-
Reiss, J.1
Gross-Hardt, S.2
Christensen, E.3
Schmidt, R.4
Mendel, R.R.5
Schwarz, G.6
-
7
-
-
0034058082
-
Genetics of molybdenum cofactor deficiency
-
Reiss, J. (2000) Genetics of molybdenum cofactor deficiency. Hum. Genet., 106, 157-163.
-
(2000)
Hum. Genet.
, vol.106
, pp. 157-163
-
-
Reiss, J.1
-
8
-
-
0027723681
-
Gephyrin antisense oligonucleotides prevent glycine receptor clustering in spinal neurons
-
Kirsch, J., Wolters, I., Triller, A. and Betz, H. (1993) Gephyrin antisense oligonucleotides prevent glycine receptor clustering in spinal neurons. Nature, 366, 745-748.
-
(1993)
Nature
, vol.366
, pp. 745-748
-
-
Kirsch, J.1
Wolters, I.2
Triller, A.3
Betz, H.4
-
9
-
-
0343729350
-
A receptor clustering in Gephyrin-deficient mice
-
A receptor clustering in Gephyrin-deficient mice. J Neurosci., 19, 9289-9297.
-
(1999)
J. Neurosci.
, vol.19
, pp. 9289-9297
-
-
Kneussel, M.1
Brandstätter, J.H.2
Laube, B.3
Stahl, S.4
Müller, U.5
Betz, H.6
-
10
-
-
0032514872
-
Dual requirement for Gephyrin in glycine receptor clustering and molybdoenzyme activity
-
Feng, G., Tintrup, H., Kirsch, J., Nichol, M.C., Kuhse, J., Beth, H. and Sanes, J.R. (1998) Dual requirement for Gephyrin in glycine receptor clustering and molybdoenzyme activity. Science, 282, 1321-1324.
-
(1998)
Science
, vol.282
, pp. 1321-1324
-
-
Feng, G.1
Tintrup, H.2
Kirsch, J.3
Nichol, M.C.4
Kuhse, J.5
Beth, H.6
Sanes, J.R.7
-
11
-
-
0024565588
-
Molybdenum cofactor biosynthesis in humans
-
Johnson, J.L., Wuebbens, M.M., Mandell, R. and Shih, V.E. (1989) Molybdenum cofactor biosynthesis in humans. J. Clin. Invest., 83, 897-903.
-
(1989)
J. Clin. Invest.
, vol.83
, pp. 897-903
-
-
Johnson, J.L.1
Wuebbens, M.M.2
Mandell, R.3
Shih, V.E.4
-
12
-
-
0033930936
-
Diverse splicing mechanisms fuse the evolutionary conserved MOCS1A and MOCS1B open reading frames
-
Gray, T.A. and Nicholls, R.D. (2000) Diverse splicing mechanisms fuse the evolutionary conserved MOCS1A and MOCS1B open reading frames. RNA, 6, 928-936.
-
(2000)
RNA
, vol.6
, pp. 928-936
-
-
Gray, T.A.1
Nicholls, R.D.2
-
13
-
-
0037166328
-
Functionality of alternative splice forms of the first enzymes involved in human molybdenum cofactor deficiency
-
Hänzelmann, P., Schwarz, G. and Mendel, R.R. (2002) Functionality of alternative splice forms of the first enzymes involved in human molybdenum cofactor deficiency. J. Biol. Chem., 277, 18303-18312.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 18303-18312
-
-
Hänzelmann, P.1
Schwarz, G.2
Mendel, R.R.3
-
14
-
-
0025780879
-
Neonatal lethality and lymphopenia in mice with a homozygous disruption of the c-abl protooncogene
-
Tybulewicz, V.L., Grawford, C.E., Jackson, P.K., Bronson, R.T. and Mulligan, R.C. (1991) Neonatal lethality and lymphopenia in mice with a homozygous disruption of the c-abl protooncogene. Cell, 65, 1153-1163.
-
(1991)
Cell
, vol.65
, pp. 1153-1163
-
-
Tybulewicz, V.L.1
Grawford, C.E.2
Jackson, P.K.3
Bronson, R.T.4
Mulligan, R.C.5
-
16
-
-
0024259844
-
Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency
-
Endres, W., Shin, Y.S., Günther, R., Ibel, H., Duran, M. and Wadman, S.K. (1988) Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency. Eur J. Pediatr., 148, 246-249.
-
(1988)
Eur. J. Pediatr.
, vol.148
, pp. 246-249
-
-
Endres, W.1
Shin, Y.S.2
Günther, R.3
Ibel, H.4
Duran, M.5
Wadman, S.K.6
-
17
-
-
0031750984
-
Ahomocysteinemia in molybdenum cofactor deficiency
-
Graf, W.D., Oleinik, O.E., Jack, R.M., Weiss, A.H. and Johson, J.L. (1998) Ahomocysteinemia in molybdenum cofactor deficiency. Neurology, 51, 860-862.
-
(1998)
Neurology
, vol.51
, pp. 860-862
-
-
Graf, W.D.1
Oleinik, O.E.2
Jack, R.M.3
Weiss, A.H.4
Johson, J.L.5
-
19
-
-
0028822431
-
A mild form of infantile isolated sulfite oxidase deficiency
-
Barbot, C., Martins, E., Vilarinho, L., Dorche, C. and Cardoso, M.L. (1995) A mild form of infantile isolated sulfite oxidase deficiency. Neuropediatrics, 26, 322-324.
-
(1995)
Neuropediatrics
, vol.26
, pp. 322-324
-
-
Barbot, C.1
Martins, E.2
Vilarinho, L.3
Dorche, C.4
Cardoso, M.L.5
-
20
-
-
0026004313
-
Infantile isolated sulfite oxidase deficiency: Report of a case with negative sulfite test and normal sulphate excretion
-
Van der Klei-van Moorsel, J.M., Smit, L.M.E., Brockstedt, M., Jakobs, C., Dorche, C. and Duran, M. (1991) Infantile isolated sulfite oxidase deficiency: report of a case with negative sulfite test and normal sulphate excretion. Eur. J. Pediatr., 150, 196-197.
-
(1991)
Eur. J. Pediatr.
, vol.150
, pp. 196-197
-
-
Van der Klei-van Moorsel, J.M.1
Smit, L.M.E.2
Brockstedt, M.3
Jakobs, C.4
Dorche, C.5
Duran, M.6
-
21
-
-
0036199981
-
New insights into the neuropathogenesis of molybdenum cofactor deficiency
-
Salman, M.S., Ackerley, C., Senger, C. and Becker, L. (2002) New insights into the neuropathogenesis of molybdenum cofactor deficiency. Can. J. Neurol. Sci., 29, 91-96.
-
(2002)
Can. J. Neurol. Sci.
, vol.29
, pp. 91-96
-
-
Salman, M.S.1
Ackerley, C.2
Senger, C.3
Becker, L.4
-
22
-
-
0033364822
-
Human Molybdopterin synthase gene: Identification of a bicistronic transcript with overlapping reading frames
-
Stallmeyer, B., Drugeon, G., Reiss, J., Haenni, A.L. and Mendel, R.R. (1999) Human Molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames. Am. J. Hum. Genet., 64, 698-705.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 698-705
-
-
Stallmeyer, B.1
Drugeon, G.2
Reiss, J.3
Haenni, A.L.4
Mendel, R.R.5
-
23
-
-
0024464209
-
Complete sequence of the coding region of human elongation factor 2 (EF-2) by enzymatic amplication of cDNA form human ovarian granulose cells
-
Rapp, G., Klaudiny, J., Hagendorff, G., Luck, M.R. and Scheit, K.H. (1989) Complete sequence of the coding region of human elongation factor 2 (EF-2) by enzymatic amplication of cDNA form human ovarian granulose cells. Biol. Chem. Hoppe-Seyler, 370, 1071-1075.
-
(1989)
Biol. Chem. Hoppe-Seyler
, vol.370
, pp. 1071-1075
-
-
Rapp, G.1
Klaudiny, J.2
Hagendorff, G.3
Luck, M.R.4
Scheit, K.H.5
-
24
-
-
0021751227
-
Monoclonal antibodies and peptide mapping reveal structural similarities between the subunits of the glycine receptor of rat spinal cord
-
Pfeiffer, F., Simler, R., Grenningloh, G. and Betz, H. (1984) Monoclonal antibodies and peptide mapping reveal structural similarities between the subunits of the glycine receptor of rat spinal cord. Proc. Natl Acad. Sci. USA, 81, 7224-7227.
-
(1984)
Proc. Natl. Acad. Sci. USA
, vol.81
, pp. 7224-7227
-
-
Pfeiffer, F.1
Simler, R.2
Grenningloh, G.3
Betz, H.4
-
25
-
-
0015186726
-
In vitro formation of assimilatory reduced nicotinamide adenine dinucleotide phosphate: Nitrate reductase from a Neurospora mutant and a component of molybdenum-enzymes
-
Nason, A., Lee, K.Y., Pan, S.S., Ketchum, P.A., Lamberti, A. and DeVries, J. (1971) In vitro formation of assimilatory reduced nicotinamide adenine dinucleotide phosphate: nitrate reductase from a Neurospora mutant and a component of molybdenum-enzymes. Proc. Natl Acad. Sci. USA, 68, 3242-3246.
-
(1971)
Proc. Natl. Acad. Sci. USA
, vol.68
, pp. 3242-3246
-
-
Nason, A.1
Lee, K.Y.2
Pan, S.S.3
Ketchum, P.A.4
Lamberti, A.5
DeVries, J.6
-
26
-
-
0026046084
-
Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples
-
Johnson, J.L., Rajagopalan, K.V., Lanman, J.T., Schutgens, R.B., van Gennip, A.H., Sorensen, P. and Applegarth, D.A. (1991) Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples. J. Inherit. Metab. Dis., 14, 932-937.
-
(1991)
J. Inherit. Metab. Dis.
, vol.14
, pp. 932-937
-
-
Johnson, J.L.1
Rajagopalan, K.V.2
Lanman, J.T.3
Schutgens, R.B.4
van Gennip, A.H.5
Sorensen, P.6
Applegarth, D.A.7
-
27
-
-
0000859352
-
A common genetic determinant of xanthine dehydrogenase and nitrate reductase in Nicotiana tabacum
-
Mendel, R.R. and Müller, A.J. (1976) A common genetic determinant of xanthine dehydrogenase and nitrate reductase in Nicotiana tabacum. Biochem. Physiol. Pflanzen, 70, 538-541.
-
(1976)
Biochem. Physiol. Pflanzen
, vol.70
, pp. 538-541
-
-
Mendel, R.R.1
Müller, A.J.2
-
28
-
-
0030028266
-
Purification and properties of flavin-and molybdenum-containing aldehyde oxidase from coleoptyles of maize
-
Koshiba, T., Saito, E., Ono, N., Yamamoto, N. and Sato, M. (1996) Purification and properties of flavin-and molybdenum-containing aldehyde oxidase from coleoptyles of maize. Plant Physiol., 110, 781-789.
-
(1996)
Plant. Physiol.
, vol.110
, pp. 781-789
-
-
Koshiba, T.1
Saito, E.2
Ono, N.3
Yamamoto, N.4
Sato, M.5
-
29
-
-
0001964301
-
Analysis of purines and pyrimidines in blood, urine, and other physiological fluids
-
Hommes F. A. (ed.), Wiley-Liss, New York
-
Simmonds, H.A., Duley, J.A. and Davies, P.M. (1991) Analysis of purines and pyrimidines in blood, urine, and other physiological fluids. In: Hommes F. A. (ed.), Techniques in Diagnostic Human Biochemical Genetics: A Laboratory Manual. Wiley-Liss, New York, pp. 397-424.
-
(1991)
Techniques in Diagnostic Human Biochemical Genetics: A Laboratory Manual
, pp. 397-424
-
-
Simmonds, H.A.1
Duley, J.A.2
Davies, P.M.3
-
30
-
-
0000841697
-
Ueber den Niederschlag, welchen Pikrinsäure in normalem Harn erzeugt und über eine neue Reaction des Kreatinins
-
Jaffé, M. (1886) Ueber den Niederschlag, welchen Pikrinsäure in normalem Harn erzeugt und über eine neue Reaction des Kreatinins. Z. Physiol. Chem., 10, 391-400.
-
(1886)
Z. Physiol. Chem.
, vol.10
, pp. 391-400
-
-
Jaffé, M.1
|