S. Boy

Use of guidelines improves the neurological outcome in glutaric aciduria type I

I. Harting, J. Zschocke, S. Kölker, 2010, Annals of neurology.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

M. Baumgartner, E. Rodrigues, C. Ortez, 2015, Journal of Inherited Metabolic Disease.

Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.

C. Greenberg, A. Schlune, S. Kölker, 2012, Molecular genetics and metabolism.

Glutaric aciduria type I: A translational approach to an enigmatic disease

S. Kölker, J. Okun, S. Sauer, 2011 .