Machine Learning Methods Improve Specificity in Newborn Screening for Isovaleric Aciduria
Elaine Zaunseder(Ollscoil na Gaillimhe – University of Galway), Stefan Kölker(Heidelberg University), Vincent Heuveline(Heidelberg University), Saskia Haupt(Heidelberg University), Georg F. Hoffmann(Heidelberg University), Patrik Feyh(Heidelberg University), Sven F. Garbade(Heidelberg University), Ulrike Mütze(Heidelberg University)
Cited by 18
Related Papers
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
|Nature Genetics|2012|279
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
|Journal of Inherited Metabolic Disease|2015|248
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
|Journal of Inherited Metabolic Disease|2015|236
Use of guidelines improves the neurological outcome in glutaric aciduria type I
|Annals of Neurology|2010|169