|1.||González-Alanís, Rogerio: 1 article (05/2008)|
|2.||Torres-Sepúlveda, María del Rosario: 1 article (05/2008)|
|3.||Sánchez-Peña, Alejandra: 1 article (05/2008)|
|4.||Esmer, Carmen: 1 article (05/2008)|
|5.||Ruiz-Herrera, Consuelo: 1 article (05/2008)|
|6.||Villarreal-Pérez, Jesús Z: 1 article (05/2008)|
|7.||Mendoza-Cruz, José Alberto: 1 article (05/2008)|
|8.||Martínez-de Villarreal, Laura E: 1 article (05/2008)|
|9.||Wacharasindhu, S: 1 article (09/2000)|
|10.||Dhamcharee, V: 1 article (09/2000)|
|4.||Multiple Carboxylase Deficiency (Deficiency, Multiple Carboxylase)
01/01/1988 - "1. The multiple carboxylase deficiencies are inborn errors in the metabolism of biotin in which there is defective activity of propionyl CoA carboxylase, 3-methylcrotonyl CoA carboxylase and pyruvate carboxylase. "
01/01/1984 - "In biotin-responsive multiple carboxylase deficiency, a characteristic organic aciduria reflects in vivo deficiency of mitochondrial propionyl CoA carboxylase, 3-methylcrotonyl CoA carboxylase, and pyruvate carboxylase. "
09/01/1981 - "Three biotin-dependent enzymes, pyruvate carboxylase (PC), propionyl CoA carboxylase (PCC), and beta-methylcrotonyl CoA carboxylase (beta MCC), were biochemically characterized in fibroblasts from two patients with neonatal multiple carboxylase deficiency. "
07/01/1981 - "Multiple carboxylase deficiency is characterized by deficient activities of three biotin-dependent enzymes, propionyl coenzyme A carboxylase, pyruvate carboxylase, and beta-methylcrotonyl coenzyme A carboxylase. "
04/09/1981 - "Multiple carboxylase deficiency has previously been characterized by deficient activity of three biotin-dependent enzymes: propionyl CoA carboxylase, pyruvate carboxylase and beta-methylcrotonyl CoA carboxylase. "
|5.||Maple Syrup Urine Disease
09/01/1997 - "An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme: a carboxylase deficiency detected by newborn screening for maple syrup urine disease."
01/01/1984 - "We review the outcome of patients with maple syrup urine disease (14 classical patients and three variants), biotinidase deficiency (two patients) and non-cofactor-responsive variants of methylmalonic acidaemia (eight patients), propionic acidaemia (eight patients) and isolated 3-methylcrotonyl CoA carboxylase deficiency (three patients). "
|1.||Coenzyme A (CoA)
|2.||Methylmalonyl-CoA Decarboxylase (Propionyl CoA Carboxylase)
|4.||Biotin (Vitamin H)
|7.||Glutathione synthetase deficiency