Familias GA | acilcarnitinas

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

P-202 Routine use of a secondary ion transition to facilitate identification of glutarylcarnitine in plasma and bloodspot acylcarnitine profiling by tandem mass spectrometry 2014

Objectives: To improve the identification of glutarylcarnitine at low concentrations in routine profiling of acylcarnitines by LC-MS/MS. This is important for detecting low-excretor variants of glutaryl-CoA dedrogenase deficiency (GA-1) and in multiple acyl-CoA dehydrogenase deficiency (MADD), but can be problematic due to isobaric interferences. Method: Alongside...

27 septiembre, 2022 / 0 Comentario

The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I 2005

The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I 2005...

02 agosto, 2019 / 0 Comentario

The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors 2016

The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors 2016...

02 agosto, 2019 / 0 Comentario

Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-Oxoadipic acids 2005

Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-Oxoadipic acids 2005...

01 agosto, 2019 / 0 Comentario

Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum 2015

Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma Serum...

31 julio, 2019 / 0 Comentario

Glutaryl-CoA dehydrogenase deficiency region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen 2003

Glutaryl-CoA dehydrogenase deficiency region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen 2003...

21 julio, 2019 / 0 Comentario

Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency 2009

Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency 2009...

18 julio, 2019 / 0 Comentario

Comparison of amino acids and acylcarnitines assay methods used in newborn screening assays by tandem mass spectrometry 2010

Comparison of amino acids and acylcarnitines assay methods used in newborn screening assays by tandem mass spectrometry...

29 junio, 2019 / 0 Comentario

Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry

Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry...

24 junio, 2019 / 0 Comentario

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