Targeted versus untargeted omics - the CAFSA story.

Del Mar Amador, Maria

Targeted versus untargeted omics - the CAFSA story. [electronic resource] - Journal of inherited metabolic disease 05 2018 - 447-456 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1573-2665

10.1007/s10545-017-0134-3 doi


Adult
Case-Control Studies
Cerebellar Ataxia--cerebrospinal fluid
DNA Mutational Analysis
DNA Polymerase gamma--genetics
DNA, Mitochondrial--analysis
Female
Genomics--methods
Humans
Male
Mass Spectrometry
Metabolomics--methods
N-Acetylneuraminic Acid--cerebrospinal fluid
Siblings
Tetrahydrofolates--analysis
Exome Sequencing--methods