-
1
-
-
0016432247
-
Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies
-
1. Przyrembel H, Bachmann D, Lombeck I, Becker K, Wendel U, Wadman SK, et al. Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies. Clin Chim Acta 1975; 58; 257-69
-
(1975)
Clin Chim Acta
, vol.58
, pp. 257-269
-
-
Przyrembel, H.1
Bachmann, D.2
Lombeck, I.3
Becker, K.4
Wendel, U.5
Wadman, S.K.6
-
2
-
-
0016761102
-
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
-
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
-
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
-
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
-
6
-
-
0021613130
-
A patient with α-ketoadipic and α-aminoadipic aciduria
-
6. Duran M, Beemer FA, Wadman SK, Wendel U, Janssen B. A patient with α-ketoadipic and α-aminoadipic aciduria. J Inher Metab Dis 1984; 7: 61
-
(1984)
J Inher Metab Dis
, vol.7
, pp. 61
-
-
Duran, M.1
Beemer, F.A.2
Wadman, S.K.3
Wendel, U.4
Janssen, B.5
-
7
-
-
0022359012
-
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
-
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
-
-
0027450217
-
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
-
-
0001778111
-
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry
-
10. Matsumoto I, Kuhara T. A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry. Mass Spectrum Rev 1996; 15: 43-57
-
(1996)
Mass Spectrum Rev
, vol.15
, pp. 43-57
-
-
Matsumoto, I.1
Kuhara, T.2
-
11
-
-
0016271846
-
α-amino adipic aciduria in an oligophrenic child
-
11. Lormans S, Lowenthal A. α-amino adipic aciduria in an oligophrenic child. Clin Chim Acta 1974; 57: 97-101
-
(1974)
Clin Chim Acta
, vol.57
, pp. 97-101
-
-
Lormans, S.1
Lowenthal, A.2
-
12
-
-
0028986042
-
Abnormal α-aminadipic acid excretion in a newborn with a defect in platelet aggregation and antenatal cerebral haemorrhage
-
12. Candito M, Richelme C, Parvy P, Dageville C, Appert A, Bekri S, et al. Abnormal α-aminadipic acid excretion in a newborn with a defect in platelet aggregation and antenatal cerebral haemorrhage. J Inher Metab Dis 1995; 18: 56-60
-
(1995)
J Inher Metab Dis
, vol.18
, pp. 56-60
-
-
Candito, M.1
Richelme, C.2
Parvy, P.3
Dageville, C.4
Appert, A.5
Bekri, S.6
-
13
-
-
0029796654
-
Treatment with vigabatrin may mimic α-aminoadipic aciduria
-
13. Vallat C, Rivier F, Bellet H, de Bornier M, Mion H, Echenne B. Treatment with vigabatrin may mimic α-aminoadipic aciduria. Epilepsia 1996; 37: 803-5
-
(1996)
Epilepsia
, vol.37
, pp. 803-805
-
-
Vallat, C.1
Rivier, F.2
Bellet, H.3
De Bornier, M.4
Mion, H.5
Echenne, B.6
-
14
-
-
0016398456
-
Lysine metabolism in Reye's syndrome
-
14. Shih VE, Glick TH, Bercu BB. Lysine metabolism in Reye's syndrome. Lancet 1974; II; 163-4
-
(1974)
Lancet
, vol.2
, pp. 163-164
-
-
Shih, V.E.1
Glick, T.H.2
Bercu, B.B.3
-
15
-
-
0020627002
-
Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehyrogenase deficiency
-
15. Kuhara T, Shinka T, Inoue Y, Matsumoto M, Yoshino M, Sakaguchi Y, et al. Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehyrogenase deficiency. Clin Chim Acta 1983; 133: 133-40
-
(1983)
Clin Chim Acta
, vol.133
, pp. 133-140
-
-
Kuhara, T.1
Shinka, T.2
Inoue, Y.3
Matsumoto, M.4
Yoshino, M.5
Sakaguchi, Y.6
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