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Volumn 297, Issue 19, 1977, Pages 1022-1028

Sulfite Oxidase Deficiency: Biochemical and Clinical Investigations of a Hereditary Metabolic Disorder in Sulfur Metabolism

Author keywords

[No Author keywords available]

Indexed keywords

ENZYME; S SULFOCYSTEINE; SULFITE OXIDASE; SULFUROUS ACID; UNCLASSIFIED DRUG;

EID: 0017732442     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJM197711102971902     Document Type: Article
Times cited : (130)

References (28)
  • 1
    • 0014214685 scopus 로고
    • Sulfite oxidase deficiency in man: demonstration of the enzymatic defect
    • Mudd SH, Irreverre F, Laster L: Sulfite oxidase deficiency in man: demonstration of the enzymatic defect. Science 156: 1599–1602, 1967
    • (1967) Science , vol.156 , pp. 1599-1602
    • Mudd, S.H.1    Irreverre, F.2    Laster, L.3
  • 2
    • 0001293575 scopus 로고
    • Sulfite oxidase deficiency: studies of a patient with mental retardation, dislocated lenses, and abnormal urinary excretion of S-sulfo-L-cysteine, sulfite, and thiosulfate
    • Irreverre F, Mudd SH, Heizer WD, et al: Sulfite oxidase deficiency: studies of a patient with mental retardation, dislocated lenses, and abnormal urinary excretion of S-sulfo-L-cysteine, sulfite, and thiosulfate. Biochem Med 1: 187–217, 1967
    • (1967) Biochem Med , vol.1 , pp. 187-217
    • Irreverre, F.1    Mudd, S.H.2    Heizer, W.D.3
  • 3
    • 0014370103 scopus 로고
    • Neuropathologic changes in a case of sulfite oxidase deficiency
    • Rosenblum WI: Neuropathologic changes in a case of sulfite oxidase deficiency. Neurology (Minneap) 18: 1187–1196, 1968
    • (1968) Neurology (Minneap) , vol.18 , pp. 1187-1196
    • Rosenblum, W.I.1
  • 4
    • 0001043472 scopus 로고
    • Sulfite oxidase deficiency: sulfate esters in tissues and urine
    • Percy AK, Mudd SH, Irreverre F, et al: Sulfite oxidase deficiency: sulfate esters in tissues and urine. Biochem Med 2: 198–208, 1968
    • (1968) Biochem Med , vol.2 , pp. 198-208
    • Percy, A.K.1    Mudd, S.H.2    Irreverre, F.3
  • 5
    • 0004239402 scopus 로고
    • Laboratory Techniques for the Detection of Hereditary Metabolic Disorders
    • Cleveland, CRC Press
    • Shih VE: Laboratory Techniques for the Detection of Hereditary Metabolic Disorders. Cleveland, CRC Press, 1973, pp 11–76
    • (1973) , pp. 11-76
    • Shih, V.E.1
  • 6
    • 0014254216 scopus 로고
    • Determination of sulfite in biological fluids: the usefulness of radioactive N-ethylmaleimide
    • Mudd SH: Determination of sulfite in biological fluids: the usefulness of radioactive N-ethylmaleimide. Anal Biochem 22: 242–248, 1968
    • (1968) Anal Biochem , vol.22 , pp. 242-248
    • Mudd, S.H.1
  • 7
    • 0000196317 scopus 로고
    • A colorimetric method for the determination of thiosulfate
    • Sörbo B: A colorimetric method for the determination of thiosulfate. Biochim Biophys Acta 23: 412–416, 1957
    • (1957) Biochim Biophys Acta , vol.23 , pp. 412-416
    • Sörbo, B.1
  • 8
    • 0004193946 scopus 로고
    • Practical Physiological Chemistry
    • New York, Blakiston
    • Hawk PB, Oser BL, Summerson WH: Practical Physiological Chemistry. New York, Blakiston, 1947, pp 887–889
    • (1947) , pp. 887-889
    • Hawk, P.B.1    Oser, B.L.2    Summerson, W.H.3
  • 9
    • 0017087201 scopus 로고
    • Purification and properties of sulfite oxidase from human liver
    • Johnson JL, Rajagopalan KV: Purification and properties of sulfite oxidase from human liver. J Clin Invest 58: 543–550, 1976
    • (1976) J Clin Invest , vol.58 , pp. 543-550
    • Johnson, J.L.1    Rajagopalan, K.V.2
  • 10
    • 0000630221 scopus 로고
    • Synthesis and characterization of sodium cysteine-S-sulfate monohydrate
    • Segel IH, Johnson MJ: Synthesis and characterization of sodium cysteine-S-sulfate monohydrate. Anal Biochem 5: 330–337, 1963
    • (1963) Anal Biochem , vol.5 , pp. 330-337
    • Segel, I.H.1    Johnson, M.J.2
  • 11
    • 0013808195 scopus 로고
    • Homocystinuria due to cystathionine synthase deficiency: the metabolism of L-methionine
    • Laster L, Mudd SH, Finkelstein JD, et al: Homocystinuria due to cystathionine synthase deficiency: the metabolism of L-methionine. J Clin Invest 44: 1708–1719, 1965
    • (1965) J Clin Invest , vol.44 , pp. 1708-1719
    • Laster, L.1    Mudd, S.H.2    Finkelstein, J.D.3
  • 12
    • 1842458668 scopus 로고
    • Genetic studies on ectopia lentis: a pedigree of simple ectopia of the lens
    • Falls HF, Cotterman CW: Genetic studies on ectopia lentis: a pedigree of simple ectopia of the lens. Arch Ophthalmol 30: 610–620, 1943
    • (1943) Arch Ophthalmol , vol.30 , pp. 610-620
    • Falls, H.F.1    Cotterman, C.W.2
  • 13
  • 14
    • 0003613907 scopus 로고
    • Heritable Disorders of Connective Tissue
    • Fourth edition. Mosby, St Louis
    • McKusick VA: Heritable Disorders of Connective Tissue. Fourth edition. Mosby, St Louis, 1972, p 319
    • (1972) , pp. 319
    • McKusick, V.A.1
  • 15
    • 0013660658 scopus 로고
    • Inheritance of arachnodactyly, ectopia lentis and other congenital anomalies (Marfan's syndrome) in the E. family
    • Lutman FC, Neel JV: Inheritance of arachnodactyly, ectopia lentis and other congenital anomalies (Marfan's syndrome) in the E. family. Arch ophthalmol 41: 276–305, 1949
    • (1949) Arch ophthalmol , vol.41 , pp. 276-305
    • Lutman, F.C.1    Neel, J.V.2
  • 16
    • 0016409566 scopus 로고
    • Marfan-like syndrome with lens involvement: hyaloideoretinai degeneration with anterior chamber angle, facial, dental, and skeletal anomalies
    • Cotlier E, Reinglass H: Marfan-like syndrome with lens involvement: hyaloideoretinai degeneration with anterior chamber angle, facial, dental, and skeletal anomalies. Arch Ophthalmol 93: 93–106, 1975
    • (1975) Arch Ophthalmol , vol.93 , pp. 93-106
    • Cotlier, E.1    Reinglass, H.2
  • 18
    • 0003675092 scopus 로고
    • Spot Tests in Inorganic Analysis
    • Sixth edition. New York, Elsevier
    • Feigl F: Spot Tests in Inorganic Analysis. Sixth edition. New York, Elsevier, 1972, pp 444–445
    • (1972) , pp. 444-445
    • Feigl, F.1
  • 19
    • 85023718520 scopus 로고    scopus 로고
    • 18
    • Feigl F: Spot Tests in Inorganic Analysis18 pp 453–454
    • Feigl, F.1
  • 20
    • 0017157246 scopus 로고
    • Human sulfite oxidase deficiency: characterization of the molecular defect in a multicomponent system
    • Johnson JL, Rajagopalan KV: Human sulfite oxidase deficiency: characterization of the molecular defect in a multicomponent system. J Clin Invest 58: 551–556, 1976
    • (1976) J Clin Invest , vol.58 , pp. 551-556
    • Johnson, J.L.1    Rajagopalan, K.V.2
  • 21
    • 0015578026 scopus 로고
    • Persistence of plasma S-sulfonates following exposure of rabbits to sulfite and sulfur dioxide
    • Gunnison A, Palmes ED: Persistence of plasma S-sulfonates following exposure of rabbits to sulfite and sulfur dioxide. Toxicol Appl Pharmacol 24: 266–278, 1973
    • (1973) Toxicol Appl Pharmacol , vol.24 , pp. 266-278
    • Gunnison, A.1    Palmes, E.D.2
  • 22
    • 2642612518 scopus 로고
    • The sulphatase of ox liver. 2. The purification and properties of sulphatase A
    • Roy AB: The sulphatase of ox liver. 2. The purification and properties of sulphatase A. Biochem J 55: 653–661, 1953
    • (1953) Biochem J , vol.55 , pp. 653-661
    • Roy, A.B.1
  • 23
    • 84917944610 scopus 로고
    • Summary of toxicity data on sulfur dioxide
    • DeEds F: Summary of toxicity data on sulfur dioxide. Food Technol 15: 28–33, 1961
    • (1961) Food Technol , vol.15 , pp. 28-33
    • DeEds, F.1
  • 24
    • 0015358406 scopus 로고
    • The toxicity of sulphite. I. Long-term feeding and multigeneration studies in rats
    • Til HP, Feron VJ, de Groot AP: The toxicity of sulphite. I. Long-term feeding and multigeneration studies in rats. Food Cosmet Toxicol 10: 291–310, 1972
    • (1972) Food Cosmet Toxicol , vol.10 , pp. 291-310
    • Til, H.P.1    Feron, V.J.2    de Groot, A.P.3
  • 25
    • 0000171793 scopus 로고
    • The toxicity of sulphite. II. Short- and Long-term feeding studies in pigs
    • Til HP, Feron VJ, de Groot AP, et al: The toxicity of sulphite. II. Short- and Long-term feeding studies in pigs. Food Cosmet Toxicol 10: 463–473, 1972
    • (1972) Food Cosmet Toxicol , vol.10 , pp. 463-473
    • Til, H.P.1    Feron, V.J.2    de Groot, A.P.3
  • 26
    • 0016607824 scopus 로고
    • Cysteine-S-sulfate: brain damaging metabolite in sulfite oxidase deficiency
    • Olney JW, Misra CH, de Gubareff T: Cysteine-S-sulfate: brain damaging metabolite in sulfite oxidase deficiency. J Neuropathol Exp Neurol 34: 167–177, 1975
    • (1975) J Neuropathol Exp Neurol , vol.34 , pp. 167-177
    • Olney, J.W.1    Misra, C.H.2    de Gubareff, T.3
  • 27
    • 0014931232 scopus 로고
    • Absence of cystathionase in human fetal liver: is cystine essential?
    • Sturman JA, Gaull G, Raiha NCR: Absence of cystathionase in human fetal liver: is cystine essential? Science 169: 74–76, 1970
    • (1970) Science , vol.169 , pp. 74-76
    • Sturman, J.A.1    Gaull, G.2    Raiha, N.3
  • 28
    • 0015778236 scopus 로고
    • Genetic screening, Advances in Human Genetics
    • Edited by H Harris, K Hirschhorn, Vol 4. New York, Plenum Press
    • Levy HL: Genetic screening, Advances in Human Genetics. Edited by H Harris, K Hirschhorn, Vol 4. New York, Plenum Press, 1973, pp 1–104
    • (1973) , pp. 1-104
    • Levy, H.L.1


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