Familias GA | actividad enzimática

080-P CLINICAL AND GENETIC INVESTIGATION OF 19 JAPANESE CASES OF GLUTARIC ACIDEMIA TYPE 1 2010

080-P CLINICAL AND GENETIC INVESTIGATION OF 19 JAPANESE CASES OF GLUTARIC ACIDEMIA TYPE 1 Mushimoto YM1 , Hasegawa YH1 , Kobayashi HK1 , Purevsuren JP1, Li HL1 , Taketani TT1 , Fukuda SF1 , Yamaguchi SY1 1 Department of Pediatrics, Shimane Univer, Izumo, Japan Glutaric acidemia type1 (GA1)...

08 octubre, 2022 / 0 Comentario

149-A IF THESE PATIENTS DON’T HAVE GLUTARIC ACIDURIA TYPE I, WHAT ELSE COULD THEY HAVE? 2004

149-A IF THESE PATIENTS DON'T HAVE GLUTARIC ACIDURIA TYPE I, WHAT ELSE COULD THEY HAVE? 2004 ...

07 octubre, 2022 / 0 Comentario

139-P CLINICAL AND BIOCHEMICAL FEATURES IN 3 PATIENTS WITH GLUTARIC ACIDURIA TYPE I FOUND IN NEWBORN SCREENING 2004

139-P CLINICAL AND BIOCHEMICAL FEATURES IN 3 PATIENTS WITH GLUTARIC ACIDURIA TYPE I FOUND IN NEWBORN SCREENING...

07 octubre, 2022 / 0 Comentario

Carrier Detection in Glutaric Aciduria Type I Using Interleukin-2-Dependent Cultured Lymphocytes 1992

Carrier Detection in Glutaric Aciduria Type I 1992...

05 octubre, 2022 / 0 Comentario

019-P Enzymatic analysis of MCAD, VLCAD, GCDH and isovaleryl-CoA degydrogenase in lymphocytes with implications for neonatal creening 2007

019-P...

19 septiembre, 2022 / 0 Comentario

GM1 ganglioside prevents seizures, Na+,K+-ATPase activity inhibition and oxidative stress induced by glutaric acid and pentylenetetrazole 2006

GM1 ganglioside prevents seizures, Na+,K+-ATPase activity inhibition and oxidative stress induced by glutaric acid and pentylenetetrazole 2006...

21 julio, 2019 / 0 Comentario

Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity 2008

Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity 2008...

19 julio, 2019 / 0 Comentario

Case report: severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a turkish patient with glutaric aciduria type I 2003

710f2c34d72eef1b2425117ca0a7da13Case report severe phenotype despite high residual glutaryl-CoA dehydrogenase activity a novel mutation in a turkish patient with glutaric aciduria type I 2003...

24 junio, 2019 / 0 Comentario

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH) 2008

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH)...

13 diciembre, 2018 / 0 Comentario

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