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Results 1 - 10 of 14 > >>
EC Number Disease PubMed ID Title of Publication Category Confidence Level
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.143alpha-1,6-mannosyl-glycoprotein 2-beta-n-acetylglucosaminyltransferase deficiency 7607254 Carbohydrate-deficient glycoprotein syndrome type II. An autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive acidified-serum lysis test (HEMPAS). unassigned 0
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.143alpha-1,6-mannosyl-glycoprotein 2-beta-n-acetylglucosaminyltransferase deficiency 9455908 Hypoglycosylation of a brain glycoprotein (beta-trace protein) in CDG syndromes due to phosphomannomutase deficiency and N-acetylglucosaminyl-transferase II deficiency. causal interaction
diagnostic usage
ongoing research
unassigned
4
2
1
0
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.143Anemia 2953718 Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II. causal interaction
therapeutic application
unassigned
4
2
0
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.143Anemia, Dyserythropoietic, Congenital 2136385 HEMPAS disease: genetic defect of glycosylation. causal interaction
therapeutic application
unassigned
1
1
0
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.143Anemia, Dyserythropoietic, Congenital 2217175 Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II. causal interaction
diagnostic usage
ongoing research
therapeutic application
1
1
1
1
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.143Anemia, Dyserythropoietic, Congenital 2495036 Defective glycosylation of erythrocyte membrane glycoconjugates in a variant of congenital dyserythropoietic anemia type II: association of low level of membrane-bound form of galactosyltransferase. causal interaction
unassigned
1
0
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.143Anemia, Dyserythropoietic, Congenital 2953718 Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II. causal interaction
therapeutic application
unassigned
4
2
0
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.143Anemia, Dyserythropoietic, Congenital 10571015 HEMPAS. Hereditary erythroblastic multinuclearity with positive acidified serum lysis test. unassigned 0
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.143Congenital Disorders of Glycosylation 7607254 Carbohydrate-deficient glycoprotein syndrome type II. An autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive acidified-serum lysis test (HEMPAS). unassigned 0
Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.143Infections 23475714 Engineering the baculovirus genome to produce galactosylated antibodies in lepidopteran cells. unassigned 0
Results 1 - 10 of 14 > >>