|1.||Arenas, Joaquin: 1 article (07/2015)|
|2.||Brull, Astrid: 1 article (07/2015)|
|3.||Andreu, Antoni L: 1 article (07/2015)|
|4.||de Luna, Noemi: 1 article (07/2015)|
|5.||Pinós, Tomàs: 1 article (07/2015)|
|6.||Martín, Miguel A: 1 article (07/2015)|
|7.||Nogales-Gadea, Gisela: 1 article (07/2015)|
|8.||Santalla, Alfredo: 1 article (07/2015)|
|9.||Lucia, Alejandro: 1 article (07/2015)|
|10.||Auld, Douglas S: 1 article (02/2015)|
06/01/1991 - "Galactosemia, an inborn error of metabolism characterized by the inability to transform galactose-1-phosphate into glucose-1-phosphate, occurs in 1:50,000 live births. "
02/01/2015 - "Classic Galactosemia is a rare inborn error of metabolism that is caused by deficiency of galactose-1-phosphate uridyltransferase (GALT), an enzyme within the Leloir pathway that is responsible for the conversion of galactose-1-phosphate (gal-1-p) and UDP-glucose to glucose-1-phosphate and UDP-galactose. "
05/01/2012 - "Classic galactosemia is an autosomal recessive disorder of carbohydrate metabolism, due to a severe deficiency of the enzyme, galactose-1-phosphate uridyltransferase (GALT), that catalyzes the conversion of galactose-1-phosphate and uridine diphosphate glucose (UDPglucose) to uridine diphosphate galactose (UDPgalactose) and glucose-1-phosphate. "
12/01/2008 - "Galactosemia is an inborn error of galactose metabolism, caused by an abnormality in the conversion of galactose and uridine diphosphoglucose to glucose-1-phosphate and uridine diphosphogalactose through the action of 3 sequential enzymes: galactokinase (GALK), galactose- 1-phosphate uridyltransferase (GALT), and uridine phosphogalactose 4-epimerase (GALE). "
12/01/2014 - "Classic galactosemia (CG) is an autosomal recessive disorder resulting from loss of galactose-1-phosphate uridyltransferase (GALT), which catalyzes conversion of galactose-1-phosphate and uridine diphosphate (UDP)-glucose to glucose-1-phosphate and UDP-galactose, immediately upstream of UDP-N-acetylgalactosamine and UDP-N-acetylglucosamine synthesis. "
01/01/1971 - "[Influence of glucose-1-phosphate on metabolic acidosis of liver patients during shock]."
03/01/1970 - "The existence of glucose-1-phosphate binding factor was proved in the shock fluid which was prepared from the cells grown on both glucose-1-phosphate and sucrose media by osmotic shock."
|3.||Glycogen Storage Disease (Glycogenosis)
04/15/1991 - "Glucose-1-phosphate level was increased in type VII glycogenosis, whereas it was decreased in type V glycogenosis. "
05/01/2013 - "Functional testing and clinical analyses suggested a deficiency in the interconversion of glucose-1-phosphate and glucose-6-phosphate catalyzed by phosphoglucomutase (PGM1), a defect previously described as glycogenosis type XIV (GSDXIV, MIM 612934). "
|2.||Uridine Diphosphate Glucose (UDP Glucose)
|3.||Uridine Diphosphate Galactose (UDP Galactose)
|7.||UTP-Hexose-1-Phosphate Uridylyltransferase (UTP Hexose 1 Phosphate Uridylyltransferase)
|10.||Pyruvic Acid (Pyruvate)