-
1
-
-
0025318284
-
Early amniocentesis and amniotic fluid organic acid levels in the prenatal diagnosis of organic acidemias
-
Coude, M., Chadefaux, D., Rabier, D., Kamoun, P. (1990). Early amniocentesis and amniotic fluid organic acid levels in the prenatal diagnosis of organic acidemias, Clin. Chim. Acta, 187, 329-332.
-
(1990)
Clin. Chim. Acta
, vol.187
, pp. 329-332
-
-
Coude, M.1
Chadefaux, D.2
Rabier, D.3
Kamoun, P.4
-
2
-
-
0022649448
-
Stable isotope dilution analysis of isovalerylglycine in amniotic fluid and urine and its application for the prenatal diagnosis of isovaleric acidemia
-
Hine, D.G., Hack, A.M., Goodman, S.I., Tanaka, K. (1986). Stable isotope dilution analysis of isovalerylglycine in amniotic fluid and urine and its application for the prenatal diagnosis of isovaleric acidemia, Pediatr. Res., 20, 222-226.
-
(1986)
Pediatr. Res.
, vol.20
, pp. 222-226
-
-
Hine, D.G.1
Hack, A.M.2
Goodman, S.I.3
Tanaka, K.4
-
3
-
-
0024601727
-
Quantitative analysis for organic acids in biological samples: Batch isolation followed by gas chromatographic-mass spectrometric analysis
-
Hoffmann, G., Aramaki, S., Blum-Hoffmann, E., Nyhan, W.L., Sweetman, L. (1989). Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis, Clin. Chem., 35, 587-595.
-
(1989)
Clin. Chem.
, vol.35
, pp. 587-595
-
-
Hoffmann, G.1
Aramaki, S.2
Blum-Hoffmann, E.3
Nyhan, W.L.4
Sweetman, L.5
-
4
-
-
71849104860
-
Protein measurement with Folin phenol reagent
-
Lowry, O.H., Rosebrough, N.J., Farr, A.L., Randall, R.J. (1951). Protein measurement with Folin phenol reagent, J. Biol. Chem., 193, 265-275.
-
(1951)
J. Biol. Chem.
, vol.193
, pp. 265-275
-
-
Lowry, O.H.1
Rosebrough, N.J.2
Farr, A.L.3
Randall, R.J.4
-
5
-
-
0001000590
-
Infantile ketoacidosis associated with decreased activity of succinyl-CoA:3-ketoacid CoA transferase
-
Middleton, B., Day, R., Lombes, A., Saudubray, J.M. (1987). Infantile ketoacidosis associated with decreased activity of succinyl-CoA:3-ketoacid CoA transferase, J. Inher. Metab. Dis., 10 (Suppl. 2), 273-275.
-
(1987)
J. Inher. Metab. Dis.
, vol.10
, Issue.2 SUPPL.
, pp. 273-275
-
-
Middleton, B.1
Day, R.2
Lombes, A.3
Saudubray, J.M.4
-
6
-
-
0026702118
-
A new case of succinyl-CoA:acetoacetate transferase deficiency
-
Perez-Cerda, C., Merinero, B., Sanz, P., Jimenez, A., Hernandez, C., Garcia, M.J., Ugarte, M. (1992). A new case of succinyl-CoA:acetoacetate transferase deficiency, J. Inher. Metab. Dis., 15, 371-373.
-
(1992)
J. Inher. Metab. Dis.
, vol.15
, pp. 371-373
-
-
Perez-Cerda, C.1
Merinero, B.2
Sanz, P.3
Jimenez, A.4
Hernandez, C.5
Garcia, M.J.6
Ugarte, M.7
-
7
-
-
0029117717
-
A new Japanese case of succinyl-CoA:3-ketoacid CoA-transferase deficiency
-
Sakazaki, H., Hirayama, K., Murakami, S., Yonezawa, S., Shintaku, H., Sawada, Y., Fukao, T., Watanabe, H., Orii, T., Isshiki, G. (1995). A new Japanese case of succinyl-CoA:3-ketoacid CoA-transferase deficiency, J. Inher. Metab. Dis., 18, 323-325.
-
(1995)
J. Inher. Metab. Dis.
, vol.18
, pp. 323-325
-
-
Sakazaki, H.1
Hirayama, K.2
Murakami, S.3
Yonezawa, S.4
Shintaku, H.5
Sawada, Y.6
Fukao, T.7
Watanabe, H.8
Orii, T.9
Isshiki, G.10
-
8
-
-
0023472290
-
Hyperketotic states due to inherited defects of ketolysis
-
Saudubray, J.M., Specola, N., Middleton, B., Lombers, A., Bonnefont, J.P., Jakobs, C., Vassault, A., Charpentier, C., Day, R. (1987). Hyperketotic states due to inherited defects of ketolysis, Enzyme, 38, 80-90.
-
(1987)
Enzyme
, vol.38
, pp. 80-90
-
-
Saudubray, J.M.1
Specola, N.2
Middleton, B.3
Lombers, A.4
Bonnefont, J.P.5
Jakobs, C.6
Vassault, A.7
Charpentier, C.8
Day, R.9
-
9
-
-
0015310967
-
Succinyl-CoA:3-ketoacid CoA-transferase deficiency: A cause for ketoacidosis in infancy
-
Tildon, J.T., Cornblath, M. (1972). Succinyl-CoA:3-ketoacid CoA-transferase deficiency: a cause for ketoacidosis in infancy, J. Clin. Invest., 51, 493-498.
-
(1972)
J. Clin. Invest.
, vol.51
, pp. 493-498
-
-
Tildon, J.T.1
Cornblath, M.2
-
10
-
-
0014972144
-
Activities of enzymes involved in acetoacetate utilization in adult mammalian tissues
-
Williamson, D.H., Bates, M.W., Page, M.A., Krebs, H.A. (1971). Activities of enzymes involved in acetoacetate utilization in adult mammalian tissues, Biochem. J., 121, 41-47.
-
(1971)
Biochem. J.
, vol.121
, pp. 41-47
-
-
Williamson, D.H.1
Bates, M.W.2
Page, M.A.3
Krebs, H.A.4
-
11
-
-
0023185174
-
A case of glutaric aciduria type I with unique abnormalities in the cerebral CT findings
-
Yamaguchi, S., Orii, T., Yasuda, K., Kohno, Y. (1987). A case of glutaric aciduria type I with unique abnormalities in the cerebral CT findings, Tohoku J. Exp. Med., 151, 293-299.
-
(1987)
Tohoku J. Exp. Med.
, vol.151
, pp. 293-299
-
-
Yamaguchi, S.1
Orii, T.2
Yasuda, K.3
Kohno, Y.4
-
12
-
-
0023859107
-
Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency
-
Yamaguchi, S., Orii, T., Sakura, N., Miyazawa, S., Hashimoto, T. (1988). Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency, J. Clin. Invest., 81, 813-817.
-
(1988)
J. Clin. Invest.
, vol.81
, pp. 813-817
-
-
Yamaguchi, S.1
Orii, T.2
Sakura, N.3
Miyazawa, S.4
Hashimoto, T.5
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