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Volumn 20, Issue 2, 1997, Pages 227-236

Inherited defects of purine and pyrimidine metabolism: Laboratory methods for diagnosis

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLOSUCCINATE LYASE; BASE; CARBOXYLIC ACID; CREATININE; NUCLEOSIDE; PURINE; PYRIMIDINE; URIC ACID;

EID: 0031007314     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005360907238     Document Type: Conference Paper
Times cited : (35)

References (23)
  • 1
    • 0021275335 scopus 로고
    • Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism
    • Berger R, Stoker-de Vries SA, Wadman SK, et al (1984) Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism. Clin Chim Acta 141: 227-234.
    • (1984) Clin Chim Acta , vol.141 , pp. 227-234
    • Berger, R.1    Stoker-de Vries, S.A.2    Wadman, S.K.3
  • 2
    • 0018617382 scopus 로고
    • Urinary excretion of thymine and uracil in a two-year-old child with a malignant tumor of the brain
    • Berglund G, Greter J, Lindstedt S, Steen G, Waldenström J, Wass U (1979) Urinary excretion of thymine and uracil in a two-year-old child with a malignant tumor of the brain. Clin Chem 25: 1325-1328.
    • (1979) Clin Chem , vol.25 , pp. 1325-1328
    • Berglund, G.1    Greter, J.2    Lindstedt, S.3    Steen, G.4    Waldenström, J.5    Wass, U.6
  • 3
    • 0024418760 scopus 로고
    • A simple method of measurement of orotic acid and orotidine
    • Brusilow S, Hauser E (1989) A simple method of measurement of orotic acid and orotidine. J Chromatogr 493: 388-391.
    • (1989) J Chromatogr , vol.493 , pp. 388-391
    • Brusilow, S.1    Hauser, E.2
  • 4
    • 0030062097 scopus 로고    scopus 로고
    • Liquid-chromatographic study of purine metabolism abnormalities in purine nucleoside phosphorylase deficiency
    • Chantin C, Bonin B, Boulieu R, Bory C (1996) Liquid-chromatographic study of purine metabolism abnormalities in purine nucleoside phosphorylase deficiency. Clin Chem 42: 326-328.
    • (1996) Clin Chem , vol.42 , pp. 326-328
    • Chantin, C.1    Bonin, B.2    Boulieu, R.3    Bory, C.4
  • 5
    • 8544265417 scopus 로고    scopus 로고
    • Disorders of bile acid synthesis
    • Blau N, Duran M, Blaskovics ME, eds. London: Chapman & Hall Medical
    • Clayton PT (1996) Disorders of bile acid synthesis. In Blau N, Duran M, Blaskovics ME, eds. Physician's Guide to the Laboratory Diagnosis of Metabolic Disease. London: Chapman & Hall Medical, 453-465.
    • (1996) Physician's Guide to the Laboratory Diagnosis of Metabolic Disease , pp. 453-465
    • Clayton, P.T.1
  • 6
    • 0022532420 scopus 로고
    • Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines
    • De Bree PK, Wadman SK, Duran M, Fabery de Jonge H (1986) Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines. Clin Chim Acta 156: 279-288.
    • (1986) Clin Chim Acta , vol.156 , pp. 279-288
    • De Bree, P.K.1    Wadman, S.K.2    Duran, M.3    Fabery De Jonge, H.4
  • 7
    • 0000769194 scopus 로고
    • Xanthinuria, and inborn error (or deviation) of metabolism
    • Dent CE, Philpot GR (1954) Xanthinuria, and inborn error (or deviation) of metabolism. Lancet1; 182-185.
    • (1954) Lancet , vol.1 , pp. 182-185
    • Dent, C.E.1    Philpot, G.R.2
  • 9
    • 0028346448 scopus 로고
    • Group tests for selective screening of inborn errors of metabolism
    • Duran M, Dorland L, Wadman SK, Berger R (1994) Group tests for selective screening of inborn errors of metabolism. Eur J Pediatr 153 (supplement 1): S27-S32.
    • (1994) Eur J Pediatr , vol.153 , Issue.1 SUPPL.
    • Duran, M.1    Dorland, L.2    Wadman, S.K.3    Berger, R.4
  • 10
  • 12
    • 0021645906 scopus 로고
    • An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids
    • Jaeken J, Van den Berghe G (1984) An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet 2: 1058-1061.
    • (1984) Lancet , vol.2 , pp. 1058-1061
    • Jaeken, J.1    Van Den Berghe, G.2
  • 13
    • 0023816215 scopus 로고
    • Adenylosuccinase deficiency: An inborn error of purine nucleotide synthesis
    • Jaeken J, Cock P de, Duran M, et al (1988) Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. Eur J Pediatr 148: 126-131.
    • (1988) Eur J Pediatr , vol.148 , pp. 126-131
    • Jaeken, J.1    De Cock, P.2    Duran, M.3
  • 14
    • 0024500228 scopus 로고
    • Urine test for adenylosuccinase deficiency in autistic children
    • Maddocks J, Reed T (1989) Urine test for adenylosuccinase deficiency in autistic children. Lancet 1: 158-159.
    • (1989) Lancet , vol.1 , pp. 158-159
    • Maddocks, J.1    Reed, T.2
  • 15
    • 0023139407 scopus 로고
    • A new case of purine nucleoside phosphorylase deficiency: Enzymological, clinical and immunological characteristics
    • Rijksen G, Kuis W, Wadman SK, et al (1987) A new case of purine nucleoside phosphorylase deficiency: enzymological, clinical and immunological characteristics. Pediatr Res 21: 137-141.
    • (1987) Pediatr Res , vol.21 , pp. 137-141
    • Rijksen, G.1    Kuis, W.2    Wadman, S.K.3
  • 17
    • 0030917749 scopus 로고    scopus 로고
    • When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications
    • Simmonds HA, Duley JA, Fairbanks LD, McBride MB (1997) When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications. J Inher Metab Dis 20: 214-226.
    • (1997) J Inher Metab Dis , vol.20 , pp. 214-226
    • Simmonds, H.A.1    Duley, J.A.2    Fairbanks, L.D.3    McBride, M.B.4
  • 18
    • 0030969652 scopus 로고    scopus 로고
    • Inborn errors of the purine nucleotide cycle: Adenylosuccinase deficiency
    • Van den Berghe G, Vincent MF, Jaeken J (1997) Inborn errors of the purine nucleotide cycle: Adenylosuccinase deficiency. J Inher Metab Dis 20: 193-202.
    • (1997) J Inher Metab Dis , vol.20 , pp. 193-202
    • Van Den Berghe, G.1    Vincent, M.F.2    Jaeken, J.3
  • 19
    • 0018646226 scopus 로고
    • Urinary excretion of methylated purines in man and in the rat after the administration of theophylline
    • van Gennip AH, Grift J, Bree-Blom EJ van, Ketting D, Wadman SK (1979) Urinary excretion of methylated purines in man and in the rat after the administration of theophylline. J Chromatogr 163: 351-362.
    • (1979) J Chromatogr , vol.163 , pp. 351-362
    • Gennip, A.H.1    Grift, J.2    Van Bree-Blom, E.J.3    Ketting, D.4    Wadman, S.K.5
  • 20
    • 0014547740 scopus 로고
    • Rapid, high-resolution, two-dimensional amino acid chromatography on micro-scale chromatograms
    • Wadman SK, Fabery de Jonge H, Bree PK de (1969) Rapid, high-resolution, two-dimensional amino acid chromatography on micro-scale chromatograms. Clin Chim Acta 25: 87-90.
    • (1969) Clin Chim Acta , vol.25 , pp. 87-90
    • Wadman, S.K.1    Fabery De Jonge, H.2    De Bree, P.K.3
  • 21
    • 0021039908 scopus 로고
    • Absence of hepatic molybdenum cofactor - An inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase
    • Wadman SK, Duran M, Beemer FA, et al (1983) Absence of hepatic molybdenum cofactor - an inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase. J Inher Metab Dis 6 (supplement 1): 78-83.
    • (1983) J Inher Metab Dis , vol.6 , Issue.1 SUPPL. , pp. 78-83
    • Wadman, S.K.1    Duran, M.2    Beemer, F.A.3
  • 23
    • 0029943501 scopus 로고    scopus 로고
    • Abnormal serum uric acid levels in children
    • Wilcox WD (1996) Abnormal serum uric acid levels in children. J Pediatr 128: 731-741.
    • (1996) J Pediatr , vol.128 , pp. 731-741
    • Wilcox, W.D.1


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