Pyruvate carboxylase deficiency

[1] PYRUVATE-CARBOXYLASE DEFICIENCY AND LACTIC-ACIDOSIS IN A RETARDED-CHILD WITHOUT LEIGHS DISEASE [J]. PEDIATRIC RESEARCH, 1979, 13 (02) : 109 - 116

[2] PYRUVATE-CARBOXYLASE AND PHOSPHOENOLPYRUVATE CARBOXYKINASE ACTIVITY IN LEUKOCYTES AND FIBROBLASTS FROM A PATIENT WITH PYRUVATE-CARBOXYLASE DEFICIENCY [J]. PEDIATRIC RESEARCH, 1979, 13 (01) : 38 - 43

[3] Barritt G.J., 1985, P141

[4] A case of benign pyruvate carboxylase deficiency with normal development [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1997, 20 (03) : 401 - 403

[5] KERR DS, 2000, INBORN METABOLUC DIS, P127

[6] MURPHY JV, 1981, PEDIATRICS, V68, P401

[7] Robinson B H, 1996, Methods Enzymol, V264, P454, DOI 10.1016/S0076-6879(96)64041-5

[8] ROBINSON BH, 1995, METABOLIC MOL BASES, P1490

[9] VANCOSTER RN, 1991, PEDIATR RES, V30, P1

[10] Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families [J]. PEDIATRIC RESEARCH, 1998, 43 (05) : 579 - 584

[1] PYRUVATE-CARBOXYLASE DEFICIENCY AND LACTIC-ACIDOSIS IN A RETARDED-CHILD WITHOUT LEIGHS DISEASE [J]. PEDIATRIC RESEARCH, 1979, 13 (02) : 109 - 116

[2] PYRUVATE-CARBOXYLASE AND PHOSPHOENOLPYRUVATE CARBOXYKINASE ACTIVITY IN LEUKOCYTES AND FIBROBLASTS FROM A PATIENT WITH PYRUVATE-CARBOXYLASE DEFICIENCY [J]. PEDIATRIC RESEARCH, 1979, 13 (01) : 38 - 43

[3] Barritt G.J., 1985, P141

[4] A case of benign pyruvate carboxylase deficiency with normal development [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1997, 20 (03) : 401 - 403

[5] KERR DS, 2000, INBORN METABOLUC DIS, P127

[6] MURPHY JV, 1981, PEDIATRICS, V68, P401

[7] Robinson B H, 1996, Methods Enzymol, V264, P454, DOI 10.1016/S0076-6879(96)64041-5

[8] ROBINSON BH, 1995, METABOLIC MOL BASES, P1490

[9] VANCOSTER RN, 1991, PEDIATR RES, V30, P1

[10] Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families [J]. PEDIATRIC RESEARCH, 1998, 43 (05) : 579 - 584