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Annals of Neurology|October 30, 2010
Use of guidelines improves the neurological outcome in glutaric aciduria type IJana Heringer, S P Nikolas Boy, Regina Ensenauer, et al.Plos One|April 11, 2014
The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenaseJohanna M Jank, Esther M Maier, Dunja D Reiβ, et al.International Journal of Neonatal Screening|July 2, 2021
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three FamiliesJohannes Spenger, Esther M Maier, Katharina Wechselberger, et al.Brain : a Journal of Neurology|May 13, 2009
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type IInga Harting, Eva Neumaier-Probst, Angelika Seitz, et al.Molecular Genetics and Metabolism|April 24, 2012
Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experienceStefan Kölker, S P Nikolas Boy, Jana Heringer, et al.International Journal of Neonatal Screening|January 25, 2022
Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. <i>Int. J. Neonatal Screen</i>. 2021, <i>7</i>, 32Johannes Spenger, Esther M Maier, Katharina Wechselberger, et al.Annals of Neurology|September 30, 2004
Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 geneMarieke J H Coenen, Lambert P van den Heuvel, Cristina Ugalde, et al.American Journal of Human Genetics|November 15, 2016
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized DystoniaMichael Zech, Sylvia Boesch, Esther M Maier, et al.Pediatric Research|July 12, 2007
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in GermanyStefan Kölker, Sven F Garbade, Nikolas Boy, et al.Orphanet Journal of Rare Diseases|April 19, 2015
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotypeJohannes Koch, Peter Freisinger, René G Feichtinger, et al.Pageof 7