Familias GA | acilcarnitinas

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

Enzymatic evaluation of glutaric acidemia type 1 by an in vitro probe assay of acylcarnitine profiling using fibroblasts and electrospray ionization tandem mass spectrometry 2009

Enzymatic evaluation of glutaric acidemia type 1 by an in vitro probe assay of acylcarnitine profiling using fibroblasts and electrospray ionization tandem mass spectrometry 2009...

14 diciembre, 2018 / 0 Comentario

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