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Esther M. Maier

Observed names: E M Maier, E Maier, E. M. Maier, E. Maier, E.M. Maier, Esther M Maier, Esther Maier, Esther Maria Maier, Esther M. Maier, Maier, Esther, Maier, Esther M, Maier, Esther Maria
Observed institutions: Patan Academy of Health Sciences, National and Kapodistrian University of Athens, University of Zurich, Paracelsus Medical University, LMU Klinikum, University Medical Center Hamburg-Eppendorf, Paracelsus Medizinische Privatuniversität, München Klinik, Panagiotis & Aglaia Kyriakou Children's Hospital, Sotiria General Hospital, Ludwig-Maximilians-Universität München
ORCID: 0000-0002-4954-4901
Observed ORCID: 0000-0002-4954-4901
OpenAlex ID: A5032010875
Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency
2006 · Stefan Kölker, Sven F Garbade, et al. · Pediatric Research · 271
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Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision
2016 · Nikolas Boy, Chris Mühlhausen, et al. · Journal of Inherited Metabolic Disease · 229
Monogenic variants in dystonia: an exome-wide sequencing study
2020 · Michael Zech, Robert Jech, et al. · The Lancet Neurology · 212
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I
2009 · Inga Harting, Eva Neumaier-Probst, et al. · Brain · 178
Adeno-associated virus 2 infection in children with non-A–E hepatitis
2023 · Antonia Ho, Richard Orton, et al. · Nature · 174
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Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia
2016 · Michael Zech, Sylvia Boesch, et al. · The American Journal of Human Genetics · 171
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Use of guidelines improves the neurological outcome in glutaric aciduria type I
2010 · Jana Heringer, S. P. Nikolas Boy, et al. · Annals of Neurology · 167
Genomic investigations of unexplained acute hepatitis in children
2023 · Sofia Morfopoulou, Sarah Buddle, et al. · Nature · 156
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Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature
2005 · Marjolijn Jongmans, Erik A. Sistermans, et al. · American Journal of Medical Genetics Part A · 127
Disease manifestations and X inactivation in heterozygous females with Fabry disease
2006 · Esther Maier, Stephanie Osterrieder, et al. · Acta Paediatrica · 115
Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany
2007 · Stefan Kölker, Sven F Garbade, et al. · Pediatric Research · 110
Newborn screening: A disease‐changing intervention for glutaric aciduria type 1
2018 · Nikolas Boy, Katharina Mengler, et al. · Annals of Neurology · 108
Population spectrum ofACADMgenotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency
2005 · Esther M. Maier, Bernhard Liebl, et al. · Human Mutation · 108
Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment
2021 · Eugen Mengel, Marc C. Patterson, et al. · Journal of Inherited Metabolic Disease · 101
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Mutations in the Proenteropeptidase Gene Are the Molecular Cause of Congenital Enteropeptidase Deficiency
2002 · Andreas Holzinger, Esther M. Maier, et al. · The American Journal of Human Genetics · 95
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects
2017 · Maria A. Rujano, Magda Cannata Serio, et al. · The Journal of Experimental Medicine · 89
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Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity ofMCCA andMCCB mutations and impact on risk assessment
2006 · Sonja C. Stadler, Roman Polanetz, et al. · Human Mutation · 89
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision
2022 · Nikolas Boy, Chris Mühlhausen, et al. · Journal of Inherited Metabolic Disease · 88
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Polymorphisms in the gene for the human B2-bradykinin receptor. New tools in assessing a genetic risk for bradykinin-associated diseases
1996 · Andreas Braun, Stefan Kammerer, et al. · Immunopharmacology · 83
Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation
2002 · Esther M. Maier, Stefan Kammerer, et al. · Annals of Neurology · 72
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters
2009 · F. Hörster, S. F. Garbade, et al. · Journal of Inherited Metabolic Disease · 69
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire
2022 · Sarah C. Grünert, Terry G.J. Derks, et al. · Genetics in Medicine · 65
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Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)
2015 · Daniela Karall, Michaela Brunner-Krainz, et al. · Orphanet Journal of Rare Diseases · 62
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Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening
2005 · Uta Nennstiel-Ratzel, Stephan Arenz, et al. · Molecular Genetics and Metabolism · 62
Very mild cases of Rett syndrome with skewed X inactivation: Figure 1
2006 · P Huppke, E M Maier, et al. · Journal of Medical Genetics · 60
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Works count: 129
Citation count: 4,353
H-index: 37
I10-index: 64
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