-
1
-
-
0021275335
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
-
0027260369
-
Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay
-
Henderson MJ, Ward K, Simmonds HA, Duley JA, Davies PM (1993) Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay. J Inher Metab Dis 16: 574-576.
-
(1993)
J Inher Metab Dis
, vol.16
, pp. 574-576
-
-
Henderson, M.J.1
Ward, K.2
Simmonds, H.A.3
Duley, J.A.4
Davies, P.M.5
-
12
-
-
0021645906
-
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
-
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
-
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
-
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
-
16
-
-
0001964301
-
Analysis of purines and pyrimidines in blood, urine, and other physiological fluids
-
Hommes FA, ed. New York: Wiley-Liss
-
Simmonds HA, Duley JA, Davies PM (1991) Analysis of purines and pyrimidines in blood, urine, and other physiological fluids. In Hommes FA, ed. Techniques in Diagnostic Human Biochemical Genetics. A Laboratory Manual. New York: Wiley-Liss, 397-424.
-
(1991)
Techniques in Diagnostic Human Biochemical Genetics. A Laboratory Manual
, pp. 397-424
-
-
Simmonds, H.A.1
Duley, J.A.2
Davies, P.M.3
-
17
-
-
0030917749
-
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
-
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
-
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
-
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
-
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
-
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
|