-
1
-
-
0027495914
-
Molybdenum cofactor deficiency can mimic postanoxic encephalopathy
-
Bakker, H. D., N. G. G. Abeling, R. ten Houten, J. F. van den Blij, W. C. G. Overweg-Plandsoen, R. J. Wanders, A. H. van Gennip: Molybdenum cofactor deficiency can mimic postanoxic encephalopathy. J. Inher. Metab. Dis. 16 (1993) 900-901
-
(1993)
J. Inher. Metab. Dis.
, vol.16
, pp. 900-901
-
-
Bakker, H.D.1
Abeling, N.G.G.2
Ten Houten, R.3
Van Den Blij, J.F.4
Overweg-Plandsoen, W.C.G.5
Wanders, R.J.6
Van Gennip, A.H.7
-
2
-
-
0021777935
-
Neuropathological findings in a case of combined deficiency of sulphite oxidase and xanthine dehydrogenase
-
Barth, P. G., F. A. Beemer, B. P. Cats, M. Duran, S. K. Wadman: Neuropathological findings in a case of combined deficiency of sulphite oxidase and xanthine dehydrogenase Virchows Arch (Pathol Anat.) 408 (1985) 105-106
-
(1985)
Virchows Arch (Pathol Anat.)
, vol.408
, pp. 105-106
-
-
Barth, P.G.1
Beemer, F.A.2
Cats, B.P.3
Duran, M.4
Wadman, S.K.5
-
3
-
-
0024520663
-
Sulfite oxidase deficiency: Clinical, neuroradiologic, and biochemical features in two new patients
-
Brown, G. K., R. D. Scholem, H. B. Croll, J. E. Wraith, J. J. McGill: Sulfite oxidase deficiency: Clinical, neuroradiologic, and biochemical features in two new patients. Neurology 39 (1989) 252-257
-
(1989)
Neurology
, vol.39
, pp. 252-257
-
-
Brown, G.K.1
Scholem, R.D.2
Croll, H.B.3
Wraith, J.E.4
McGill, J.J.5
-
4
-
-
0021039341
-
Separation and quantitation of oxypurines by isocratic high-pressure liquid chromatography: Application to xanthinuria and the Lesch-Nyhan syndrome
-
Crawhall, J. C., K. Itiaba, S. Katz: Separation and quantitation of oxypurines by isocratic high-pressure liquid chromatography: application to xanthinuria and the Lesch-Nyhan syndrome. Biochem. Med. 30 (1983) 261-270
-
(1983)
Biochem. Med.
, vol.30
, pp. 261-270
-
-
Crawhall, J.C.1
Itiaba, K.2
Katz, S.3
-
5
-
-
0022623425
-
A mitochondrial encephalopathy: The first case with an established defect at the level of coenzyme
-
Fischer, J. C., W. Ruitenbeek, F. J. M. Gabreëls, A. J. M. Janssen, W. O. Renier, R. C. A. Sengers et al: A mitochondrial encephalopathy: the first case with an established defect at the level of coenzyme Q. Eur. J. Pediatr. 144 (1986) 441-444
-
(1986)
Q. Eur. J. Pediatr.
, vol.144
, pp. 441-444
-
-
Fischer, J.C.1
Ruitenbeek, W.2
Gabreëls, F.J.M.3
Janssen, A.J.M.4
Renier, W.O.5
Sengers, R.C.A.6
-
7
-
-
0001293575
-
Sulfite oxidase deficiency. studies of a patient with mental retardation, dislocated ocular lenses and abnormal urinary excretion of S-sulfo-L-cysteine, sulfite and thiosulfate
-
Irreverre, F., S. H. Mudd, W. D. Heizer, L. Laster: Sulfite oxidase deficiency. studies of a patient with mental retardation, dislocated ocular lenses and abnormal urinary excretion of S-sulfo-L-cysteine, sulfite and thiosulfate. Biochem. Med. 1 (1967) 187-217
-
(1967)
Biochem. Med.
, vol.1
, pp. 187-217
-
-
Irreverre, F.1
Mudd, S.H.2
Heizer, W.D.3
Laster, L.4
-
8
-
-
0017087201
-
Purification and properties of sulfite oxidase from human liver
-
Johnson, J. L., K. V. Rajagopalan: Purification and properties of sulfite oxidase from human liver. J. Clin Invest. 58 (1976) 543-550
-
(1976)
J. Clin Invest.
, vol.58
, pp. 543-550
-
-
Johnson, J.L.1
Rajagopalan, K.V.2
-
9
-
-
0017157246
-
Human sulfite oxidase deficiency. Characterization of the molecular defect in a multicomponent system
-
Johnson, J. L., K. V. Rajagopalan: Human sulfite oxidase deficiency. Characterization of the molecular defect in a multicomponent system. J Clin. Invest. 58 (1976) 551-556
-
(1976)
J Clin. Invest.
, vol.58
, pp. 551-556
-
-
Johnson, J.L.1
Rajagopalan, K.V.2
-
10
-
-
0347392877
-
Structural and metabolic relationship between the molybdenum cofactor and urothione
-
Johnson, J. L., K. V. Rajagopalan: Structural and metabolic relationship between the molybdenum cofactor and urothione. Proc. Natl. Acad. Sci. USA 79 (1982) 6856-6860
-
(1982)
Proc. Natl. Acad. Sci. USA
, vol.79
, pp. 6856-6860
-
-
Johnson, J.L.1
Rajagopalan, K.V.2
-
11
-
-
0000376653
-
Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency
-
Scriver, C. R., et al (Eds.): New York, McGraw-Hill
-
th Edition. New York, McGraw-Hill (1995) 2271-2283
-
(1995)
th Edition
, pp. 2271-2283
-
-
Johnson, J.L.1
Wadman, S.K.2
-
12
-
-
0028963679
-
An HPLC assay for detection of elevated urinary S-sulphocysteine, a metabolic marker of sulphite oxidase deficiency
-
Johnson, J. L., K. V. Rajagopalan: An HPLC assay for detection of elevated urinary S-sulphocysteine, a metabolic marker of sulphite oxidase deficiency. J. Inher. Metab. Dis. 18 (1995) 40-47
-
(1995)
J. Inher. Metab. Dis.
, vol.18
, pp. 40-47
-
-
Johnson, J.L.1
Rajagopalan, K.V.2
-
13
-
-
0029112185
-
Defective molybdopterin biosynthesis; clinical heterogeneity associated with molybdenum cofactor deficiency
-
Mize, C., J. L. Johnson, K. V Rajagopalan: Defective molybdopterin biosynthesis; clinical heterogeneity associated with molybdenum cofactor deficiency. J. Inher. Metab. Dis. 18 (1995) 283-290
-
(1995)
J. Inher. Metab. Dis.
, vol.18
, pp. 283-290
-
-
Mize, C.1
Johnson, J.L.2
Rajagopalan, K.V.3
-
14
-
-
0014370103
-
Neuropathologic changes in of case of sulfite oxidase deficiency
-
Rosenblum, W. I.: Neuropathologic changes in of case of sulfite oxidase deficiency. Neurology 18 (1968) 1187-1196
-
(1968)
Neurology
, vol.18
, pp. 1187-1196
-
-
Rosenblum, W.I.1
-
15
-
-
0021994715
-
Anatomo-pathological findings in a case of combined deficiency of sulphite oxidase and xanthine oxidase with a defect of molybdenum cofactor
-
Roth, A., C. Nogues, J. P. Monnet, H. Ogier, J. M. Saudubray: Anatomo-pathological findings in a case of combined deficiency of sulphite oxidase and xanthine oxidase with a defect of molybdenum cofactor. Virchows Arch (Pathol Anat.) 405 (1985) 379-386
-
(1985)
Virchows Arch (Pathol Anat.)
, vol.405
, pp. 379-386
-
-
Roth, A.1
Nogues, C.2
Monnet, J.P.3
Ogier, H.4
Saudubray, J.M.5
-
17
-
-
0027267464
-
Molybdenum-cofactor deficiency: An easily missed cause of neonatal convulsions
-
Slot H. M. J., W. C. G. Overweg-Plandsoen, H. D. Bakker, N. G. G. M. Abeling, P. Tamminga, P. G. Barth et al: Molybdenum-cofactor deficiency: An easily missed cause of neonatal convulsions. Neuropediatrics 24 (1993) 139-142
-
(1993)
Neuropediatrics
, vol.24
, pp. 139-142
-
-
Slot, H.M.J.1
Overweg-Plandsoen, W.C.G.2
Bakker, H.D.3
Abeling, N.G.G.M.4
Tamminga, P.5
Barth, P.G.6
-
18
-
-
0024554955
-
Attempt at therapy in sulphite oxidase deficiency
-
Tardy, Ph., Ph. Paruy, C. Charpentier, J.-P. Bonnefont, J.-M. Saudubray, P. Kamoun: Attempt at therapy in sulphite oxidase deficiency. J. Inher. Metab Dis 12 (1989) 94-95
-
(1989)
J. Inher. Metab Dis
, vol.12
, pp. 94-95
-
-
Tardy, Ph.1
Paruy, Ph.2
Charpentier, C.3
Bonnefont, J.-P.4
Saudubray, J.-M.5
Kamoun, P.6
-
19
-
-
0024242230
-
A new case of isolated sulphite oxidase deficiency with rapid fatal outcome
-
Vianey-Liaud, C., P. Desjacques, J Gaulme, C. Dorche, P. Vanlieferinghen, P. Dechelotte et al: A new case of isolated sulphite oxidase deficiency with rapid fatal outcome J. Inher Metab. Dis 11 (1988) 425-426
-
(1988)
J. Inher Metab. Dis
, vol.11
, pp. 425-426
-
-
Vianey-Liaud, C.1
Desjacques, P.2
Gaulme, J.3
Dorche, C.4
Vanlieferinghen, P.5
Dechelotte, P.6
-
20
-
-
0026004313
-
Infantile isolated sulphite oxidase deficiency: Report of a case with negative sulphite test and normal sulphate excretion
-
van der Klei-van Moorsel, J. M., L M E Smit, M. Brockstedt, C. Jakobs, C. Dorche, M. Duran: Infantile isolated sulphite oxidase deficiency: Report of a case with negative sulphite test and normal sulphate excretion. Eur. J. Pediatr. 150 (1991) 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
-
-
0028095077
-
Citrullinaemia and isolated sulphite oxidase deficiency in two siblings
-
Vilharinho, L., J. Ramos Alves, C. Dorche, B. Chadefaux, P. Parvy: Citrullinaemia and isolated sulphite oxidase deficiency in two siblings. J. Inher. Metab. Dis. 17 (1994) 638-639
-
(1994)
J. Inher. Metab. Dis.
, vol.17
, pp. 638-639
-
-
Vilharinho, L.1
Ramos Alves, J.2
Dorche, C.3
Chadefaux, B.4
Parvy, P.5
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