-
1
-
-
0014214685
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
14
-
-
0003613907
-
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
-
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
-
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
-
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
-
-
18
-
Feigl F: Spot Tests in Inorganic Analysis18 pp 453–454
-
-
-
Feigl, F.1
-
20
-
-
0017157246
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
|