The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism
Gallardo, M. Esther, Desviat, Lourdes R., Rodríguez, José M., Esparza-Gordillo, Jorge, Pérez-Cerdá, Celia, Pérez, Belén, ...
3-Methylcrotonylglycinuria is an inborn error of leucine catabolism and has a recessive pattern of inheritance that results from the deficiency of 3-methylcrotonyl-CoA carboxylase (MCC). The...
Pérez-Caballero, David, González-Rubio, Carolina, Gallardo, M. Esther, Vera, Mariá, López-Trascasa, Margarita, Rodríguez de Córdoba, Santiago, ...
Hemolytic-uremic syndrome (HUS) is a microvasculature disorder leading to microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Most cases of HUS are associated with epidemics...
Familial Syndromic Esophageal Atresia Maps to 2p23-p24
Celli, Jacopo, Van Beusekom, Ellen, Hennekam, Raoul C. M., Gallardo, M. Esther, Smeets, Dominique F. C. M., De Córdoba, Santiago Rodríguez, ...
Esophageal atresia (EA) is a common life-threatening congenital anomaly that occurs in 1/3,000 newborns. Little is known of the genetic factors that underlie EA. Oculodigitoesophageoduodenal (ODED)...
The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism
Gallardo, M. Esther, Desviat, Lourdes R., Rodríguez, José M., Esparza-Gordillo, Jorge, Pérez-Cerdá, Celia, Pérez, Belén, ...
3-Methylcrotonylglycinuria is an inborn error of leucine catabolism and has a recessive pattern of inheritance that results from the deficiency of 3-methylcrotonyl-CoA carboxylase (MCC). The...
Pérez-Caballero, David, González-Rubio, Carolina, Gallardo, M. Esther, Vera, Mariá, López-Trascasa, Margarita, Rodríguez de Córdoba, Santiago, ...
Hemolytic-uremic syndrome (HUS) is a microvasculature disorder leading to microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Most cases of HUS are associated with epidemics...
Familial Syndromic Esophageal Atresia Maps to 2p23-p24
Celli, Jacopo, Van Beusekom, Ellen, Hennekam, Raoul C. M., Gallardo, M. Esther, Smeets, Dominique F. C. M., De Córdoba, Santiago Rodríguez, ...
Esophageal atresia (EA) is a common life-threatening congenital anomaly that occurs in 1/3,000 newborns. Little is known of the genetic factors that underlie EA. Oculodigitoesophageoduodenal (ODED)...