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Volumn 88, Issue 8, 1999, Pages 911-914

Asymptomatic α-ketoadipic aciduria detected during a pilot study of neonatal urine screening

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOACID; ADIPIC ACID; HYDROXYLYSINE; LYSINE; TRYPTOPHAN;

EID: 0004945536     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1080/08035259950168874     Document Type: Article
Times cited : (8)

References (15)
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    • Przyrembel, H.1    Bachmann, D.2    Lombeck, I.3    Becker, K.4    Wendel, U.5    Wadman, S.K.6
  • 2
    • 0016761102 scopus 로고
    • α-ketoadipic aciduria: A description of a new metabolic error in lysine-tryptophan degradation
    • 2. Wilson RW, Wilson CM, Gates SC, Higgins JV. α-ketoadipic aciduria: a description of a new metabolic error in lysine-tryptophan degradation. Pediatr Res 1975; 9: 522-6
    • (1975) Pediatr Res , vol.9 , pp. 522-526
    • Wilson, R.W.1    Wilson, C.M.2    Gates, S.C.3    Higgins, J.V.4
  • 3
    • 0018932640 scopus 로고
    • Tryptophan and lysine metabolism in alpha-aminoadipic aciduria
    • 3. Fischer MH, Brown RR. Tryptophan and lysine metabolism in alpha-aminoadipic aciduria. Am J Med Genet 1980; 5: 35-41
    • (1980) Am J Med Genet , vol.5 , pp. 35-41
    • Fischer, M.H.1    Brown, R.R.2
  • 4
    • 0019136157 scopus 로고
    • Urine screening for amino-acidopathies: Is it beneficial?
    • 4. Wilcken B, Smith A, Brown DA. Urine screening for amino-acidopathies: is it beneficial? J Pediatr 1980; 97: 492-7
    • (1980) J Pediatr , vol.97 , pp. 492-497
    • Wilcken, B.1    Smith, A.2    Brown, D.A.3
  • 5
    • 0000389537 scopus 로고
    • Organic acidemias due to defects in lysine oxidation: 2-ketoadipic acidemia and glutaric acidemia
    • New York: McGraw-Hill
    • 5. Goodman SI, Frerman FE. Organic acidemias due to defects in lysine oxidation: 2-ketoadipic acidemia and glutaric acidemia. In: The Metabolic Mol. Bases of Inherited Diseases. 7th ed. New York: McGraw-Hill, 1995: 1451-60
    • (1995) The Metabolic Mol. Bases of Inherited Diseases. 7th Ed. , pp. 1451-1460
    • Goodman, S.I.1    Frerman, F.E.2
  • 7
    • 0022359012 scopus 로고
    • α-aminoadipic and α-ketoadipic aciduria: Detection of a new case by a screening program using two-dimensional thin layer chromatography of amino acids
    • 7. Vianey-Liaud C, Divry P, Cotte J. α-aminoadipic and α-ketoadipic aciduria: detection of a new case by a screening program using two-dimensional thin layer chromatography of amino acids. J Inher Metab Dis 1985; 8 Suppl 2: 133-4
    • (1985) J Inher Metab Dis , vol.8 , Issue.SUPPL. 2 , pp. 133-134
    • Vianey-Liaud, C.1    Divry, P.2    Cotte, J.3
  • 8
    • 0026551515 scopus 로고
    • A fatal case of 2-keto-, 2-hydroxy- and 2-aminoadipic aciduria: Relation of organic aciduria to phenotype?
    • 8. Jakobs C, de Grauw AJC. A fatal case of 2-keto-, 2-hydroxy- and 2-aminoadipic aciduria: relation of organic aciduria to phenotype? J Inher Metab Dis 1992; 15: 279-80
    • (1992) J Inher Metab Dis , vol.15 , pp. 279-280
    • Jakobs, C.1    De Grauw, A.J.C.2
  • 9
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    • Identification of N-acetyl-α-aminoadipic acid in the urine of a patient with α-aminoadipic and α-ketoadipic aciduria
    • 9. Takechi T, Okada T, Wakiguchi H, Morita H, Kurashige T, Sugahara K, et al. Identification of N-acetyl-α-aminoadipic acid in the urine of a patient with α-aminoadipic and α-ketoadipic aciduria. J Inher Metab Dis 1993; 16: 119-26
    • (1993) J Inher Metab Dis , vol.16 , pp. 119-126
    • Takechi, T.1    Okada, T.2    Wakiguchi, H.3    Morita, H.4    Kurashige, T.5    Sugahara, K.6
  • 10
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    • A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry
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    • 0016271846 scopus 로고
    • α-amino adipic aciduria in an oligophrenic child
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    • (1995) J Inher Metab Dis , vol.18 , pp. 56-60
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.