-
1
-
-
26944447862
-
Isolated sulphite oxidase deficiency mimics the features of hypoxic ischemic encephalopathy
-
Hobson EE, Thomas S, Crofton PM, Murray AD, Dean JCS, Lloyd D. Isolated sulphite oxidase deficiency mimics the features of hypoxic ischemic encephalopathy. Eur J Pediatr. 2005;164(11):655-9.
-
(2005)
Eur J Pediatr.
, vol.164
, Issue.11
, pp. 655-659
-
-
Hobson, E.E.1
Thomas, S.2
Crofton, P.M.3
Murray, A.D.4
Dean, J.C.S.5
Lloyd, D.6
-
2
-
-
0002451768
-
Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency
-
In: Scriver CR et al (Ed.), 8th ed. New York, McGraw Hill
-
Johnson JL, Duran M. Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. In: Scriver CR et al (Ed.) The metabolic and molecular basis of inherited disease, 8th ed. New York, McGraw Hill, p.3163-77.
-
The metabolic and molecular basis of inherited disease
, pp. 3163-3177
-
-
Johnson, J.L.1
Duran, M.2
-
3
-
-
0036688305
-
Infantile isolated sulphite oxidase deficiency in a Chinese family: A rare neurodegenerative disorder
-
Chan KY, Li CK, Lai CK, Ng SF, Chan AY. Infantile isolated sulphite oxidase deficiency in a Chinese family: a rare neurodegenerative disorder. Hong Kong Med J. 2002; 8(4):279-82.
-
(2002)
Hong Kong Med J.
, vol.8
, Issue.4
, pp. 279-282
-
-
Chan, K.Y.1
Li, C.K.2
Lai, C.K.3
Ng, S.F.4
Chan, A.Y.5
-
4
-
-
0033983433
-
Dietary therapy in two patients with a mild form of sulphite oxidase deficiency: Evidence for clinical and biological improvement
-
Touati G, Rusthoven E, Depondt E, Dorche C, Duran M, Heron B, et al. Dietary therapy in two patients with a mild form of sulphite oxidase deficiency: evidence for clinical and biological improvement. J Inherit Metab Dis. 2000; 23(1):45-53.
-
(2000)
J Inherit Metab Dis.
, vol.23
, Issue.1
, pp. 45-53
-
-
Touati, G.1
Rusthoven, E.2
Depondt, E.3
Dorche, C.4
Duran, M.5
Heron, B.6
-
5
-
-
0026004313
-
Infantile isolated sulphite oxidase deficiency: Report of a case with negative sulphite test and normal sulphate excretion
-
Van der Klei-van Moorsel JM, Smit LM, Brockstedt M, Jakobs C, Dorche C, Duran M. Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretion. Eur J Pediatr. 1991; 150(3):196-7.
-
(1991)
Eur J Pediatr.
, vol.150
, Issue.3
, pp. 196-197
-
-
Van der Klei-van Moorsel, J.M.1
Smit, L.M.2
Brockstedt, M.3
Jakobs, C.4
Dorche, C.5
Duran, M.6
-
6
-
-
0019462504
-
2-Mercaptoethanesulfonatecysteine disulfide excretion following the administration of 2-mercaptoethanesulfonate-a pitfall in the diagnosis of sulfite oxidase deficiency
-
Duran M, Aarsen G, Fokkens RH, Nibbering NM, Cats BP, de Bree PK, et al. 2-Mercaptoethanesulfonatecysteine disulfide excretion following the administration of 2-mercaptoethanesulfonate-a pitfall in the diagnosis of sulfite oxidase deficiency. Clin Chim Acta. 1981;111(1): 47-53.
-
(1981)
Clin Chim Acta.
, vol.111
, Issue.1
, pp. 47-53
-
-
Duran, M.1
Aarsen, G.2
Fokkens, R.H.3
Nibbering, N.M.4
Cats, B.P.5
de Bree, P.K.6
-
7
-
-
0028179234
-
Antibiotic interference in urinary thiosulphate measurements
-
Mann G, Kirk JM. Antibiotic interference in urinary thiosulphate measurements. J Inherit Metab Dis. 1994;17(1):120-1.
-
(1994)
J Inherit Metab Dis.
, vol.17
, Issue.1
, pp. 120-121
-
-
Mann, G.1
Kirk, J.M.2
-
8
-
-
0032841532
-
False negative thiosulphate screening test in a case of molybdenum cofactor deficiency
-
Carragher FM, Kirk JM, Steer C, Allen J, Dorche C. False negative thiosulphate screening test in a case of molybdenum cofactor deficiency. J Inherit Metab Dis. 1999;22(7):842-3.
-
(1999)
J Inherit Metab Dis.
, vol.22
, Issue.7
, pp. 842-843
-
-
Carragher, F.M.1
Kirk, J.M.2
Steer, C.3
Allen, J.4
Dorche, C.5
-
9
-
-
1942469923
-
New approaches towards laboratory diagnosis of isolated sulphite oxidase deficiency
-
Sass JO, Nakanishi T, Sato T, Shimizu A. New approaches towards laboratory diagnosis of isolated sulphite oxidase deficiency. Ann Clin Biochem. 2004;41(Pt2):157-9.
-
(2004)
Ann Clin Biochem.
, vol.41
, Issue.PART 2
, pp. 157-159
-
-
Sass, J.O.1
Nakanishi, T.2
Sato, T.3
Shimizu, A.4
-
10
-
-
33644625000
-
Isolated Sulfite Oxidase Deficiency: A case report with a novel mutation and review of the literature
-
Tan WH, Eichler FS, Hoda S, Lee MS, Baris H, Hanley CA, et al. Isolated Sulfite Oxidase Deficiency: A case report with a novel mutation and review of the literature. Paediatrics. 2005;116(3):757-66.
-
(2005)
Paediatrics.
, vol.116
, Issue.3
, pp. 757-766
-
-
Tan, W.H.1
Eichler, F.S.2
Hoda, S.3
Lee, M.S.4
Baris, H.5
Hanley, C.A.6
-
11
-
-
0023782998
-
Molybdenum cofactor deficiency in a patient previously characterized as deficient in sulfite oxidase
-
Johnson JL, Wuebbens MM, Mandell R, Shih VE. Molybdenum cofactor deficiency in a patient previously characterized as deficient in sulfite oxidase. Biochem Med Metab Biol. 1988;40(1):86-93.
-
(1988)
Biochem Med Metab Biol.
, vol.40
, Issue.1
, pp. 86-93
-
-
Johnson, J.L.1
Wuebbens, M.M.2
Mandell, R.3
Shih, V.E.4
-
12
-
-
0036116835
-
Isolated sulfite oxidase deficiency: Mutation analysis and DNA-based prenatal diagnosis
-
Johnson JL, Rajagopalan KV, Renier WO, Van Der Burgt I, Ruitenbeck W. Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis. Prenat Diagn. 2002;22(5):433-6.
-
(2002)
Prenat Diagn.
, vol.22
, Issue.5
, pp. 433-436
-
-
Johnson, J.L.1
Rajagopalan, K.V.2
Renier, W.O.3
Van Der Burgt, I.4
Ruitenbeck, W.5
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