Esther M. Maier
LMU Klinikum(DE)Becker Technologies (Germany)(DE)Ludwig-Maximilians-Universität München(DE)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Lysosomal Storage Disorders Research, Diet and metabolism studies, Folate and B Vitamins Research
Most-Cited Works
- → Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency(2006)268 cited
- → Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision(2016)229 cited
- → Monogenic variants in dystonia: an exome-wide sequencing study(2020)206 cited
- → Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I(2009)175 cited
- → Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia(2016)169 cited
- → Use of guidelines improves the neurological outcome in glutaric aciduria type I(2010)168 cited