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Volumn 20, Issue 5, 1997, Pages 681-688

Dihydropyridmidinase deficiency and congenital microvillous atrophy: Coincidence or genetic relation?

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPYRIMIDINE DEHYDROGENASE; THYMINE; URACIL; AMIDASE; DIHYDROPYRIMIDINASE; PYRIMIDINE DERIVATIVE;

EID: 0030610792     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005374426168     Document Type: Article
Times cited : (35)

References (15)
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    • Edinburgh 1994
    • Bakkeren J, De Abreu R, de Jong J, et al (1994) A new case with uraciluria, dihydrouraciluria, thyminuria and dihydrothyminuria, indicating a dihydropyrimidinase deficiency. Proceedings of the 32nd Annual Symposium of the SSIEM, Edinburgh 1994.
    • (1994) Proceedings of the 32nd Annual Symposium of the SSIEM
    • Bakkeren, J.1    De Abreu, R.2    De Jong, J.3
  • 6
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    • Familial enteropathy: A syndrome of protracted diarrhoea from birth, failure to thrive and hypoplastic villous atrophy
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    • (1978) Gastroenterology , vol.75 , pp. 783-790
    • Davidson, G.1    Cutz, E.2    Hamilton, J.3    Gall, D.4
  • 7
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    • Is β-alanine an inhibitory neurotransmitter? Minireview
    • De Feudis FV, Del Rio Martin R (1977) Is β-alanine an inhibitory neurotransmitter? Minireview. Gen Pharmac 8: 177-180.
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    • De Feudis, F.V.1    Del Rio Martin, R.2
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    • (1997) J Inher Metab Dis , vol.20 , pp. 227-236
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  • 10
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    • Reference values for nucleosides and nucleobases in cerebrospinal fluid of children
    • Gerrits GPJM, Haagen AAM, De Abreu RA, et al (1988) Reference values for nucleosides and nucleobases in cerebrospinal fluid of children. Clin Chem 34: 1439-1442.
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    • Dihydropyrimidinase deficiency presenting in infancy wtih severe developmental delay
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    • (1993) J Inher Metab Dis , vol.16 , pp. 574-576
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    • Quantitative organic acid analysis in cerebrospinal fluid and plasma: Reference values in a pediatric population
    • Hoffmann GF, Seppel CK, Holmes B, et al (1993) Quantitative organic acid analysis in cerebrospinal fluid and plasma: reference values in a pediatric population. J Chromatogr Biomed Appl 617: 1-10.
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    • Ohba S, Kidouchi K, Sumi S, et al (1995) Dihydropyrimidinuria: the first case in Japan. In Sahota A, Taylor M, eds. Purine and Pyrimidine Metabolism in Man VIII. New York: Plenum Press, 383-386.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.