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Volumn 19, Issue 2, 2010, Pages 94-100

Clinical and laboratory barriers to the timely diagnosis of sulphite oxidase deficiency

Author keywords

Encephalopathy; Molybdenum cofactor; Urinary sulphocysteine

Indexed keywords


EID: 84886257560     PISSN: 20101058     EISSN: None     Source Type: Journal    
DOI: 10.1177/201010581001900203     Document Type: Article
Times cited : (3)

References (12)
  • 1
    • 26944447862 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.