Familias GA | ácido 3 hidroxiglutárico

150-P 3-0H GLUTARIC ACID IS NOT A SPECIFIC MARKER FOR GLUTARIC ACIDEMIA TYPE I 2004

150-P 3-0H GLUTARIC ACID IS NOT A SPECIFIC MARKER FOR GLUTARIC ACIDEMIA TYPE I 2004 ...

07 octubre, 2022 / 0 Comentario

147-P TISSUE-SPECIFIC BIOENERGETIC ANALYSIS IN GCDWI- MICE 2004

147-P TISSUE-SPECIFIC BIOENERGETIC ANALYSIS IN GCDWI- MICE 2004 ...

07 octubre, 2022 / 0 Comentario

146-P THE BRAIN IS DIFFERENT – TISSUE-SPECIFIC DISTRIBUTION OF 3- HYDROXYGLUTARIC AND GLUTARIC ACIDS IN GCDIrI- MICE 2004

146-P THE BRAIN IS DIFFERENT - TISSUE-SPECIFIC DISTRIBUTION OF 3- HYDROXYGLUTARIC AND GLUTARIC ACIDS IN GCDIrI- MICE 2004 ...

07 octubre, 2022 / 0 Comentario

144-P IN VITRO EFFECT OF 3-HYDROXYGLUTARIC ACID ON ENERGY METABOLISM IN RAT STRIATUM AND CEREBRAL CORTEX 2004

144-P IN VITRO EFFECT OF 3-HYDROXYGLUTARIC ACID ON ENERGY METABOLISM IN RAT STRIATUM AND CEREBRAL CORTEX 2004 ...

07 octubre, 2022 / 0 Comentario

WS15-3 Cerebral accumulation of dicarboxylic acid in GA1- a biochemical risk factor 2006

Cerebral accumulation of dicarboxylic acid in glutaric aciduria type 1 a biochemical risk factor 2006 pag 37...

07 octubre, 2022 / 0 Comentario

CASE REPORT Clinically asymptomatic glutaric aciduria type I in a girl with 4 year old bilateral temporal arachnoid cysts 1997

CASE REPORT 1997...

05 octubre, 2022 / 0 Comentario

P-182 ANALYSIS OF 3-HYDROXYGLUTARIC ACID IN DRIED URINE SPOTS BY LC-MS/MS; APPLICATION FOR THE DIAGNOSIS OF GLUTARIC ACIDURIA TYPE 1 2011

Background: Accumulation of 3-hydroxyglutaric acid (3HGA) in body fluids is pathognomonic for type 1 Glutaric Aciduria (GA1). To date, methods for quantification of 3HGA mainly involve complex analyses using stable isotope dilution gas chromatography mass spectrometry (GC/MS). Here, we describe a simple liquid chromatography tandem...

27 septiembre, 2022 / 0 Comentario

Stable-isotope dilution gas chromatography–mass spectrometric measurement of 3-hydroxyglutaric acid, glutaric acid and related metabolites in body fluids of patients with glutaric aciduria type 1 found in newborn screening 2005

Stable-isotope dilution gas chromatography–mass spectrometric measurement of 3-hydroxyglutaric acid, glutaric acid and related metabolites in body fluids of patients with glutaric aciduria type 1 found in newborn screening 2005 ...

24 septiembre, 2022 / 0 Comentario

Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood–brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency 2006

Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood–brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency 2006...

24 septiembre, 2022 / 0 Comentario

P-202 A knock-in rat model for glutaric aciduria type I confirms cerebral ammonium accumulation 2018

P-202 A knock-in rat model for glutaric aciduria type I confirms cerebral ammonium accumulation 2018 Costanzo M4 , Caterino M4 , Ruoppolo M4 , Barroso M5 , Gersting S W5, Braissant O2 , Ballhausen D1 1 Center of Molecular Diseases, Lausanne U, Lausanne, Switzerland, 2 Service...

19 septiembre, 2022 / 0 Comentario

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