Esther M. Maier - Concepedia

Author

Esther M. Maier

Ludwig-Maximilians-Universität München ORCID

Also Known As

E M Maier, E MAIER, E Maier, E. M. Maier, E. Maier, E.M. Maier, Esther M Maier, Esther M. Maier, Esther Maier, Esther Maria Maier

142

Publications

4.2K

Citations

H-Index

101

Concepts

All Affiliations

Ludwig-Maximilians-Universität München Heidelberg University University Hospital Heidelberg Universität Hamburg Heinrich Heine University Düsseldorf

About

Esther M. Maier is an author at Ludwig-Maximilians-Universität München specializing in medicine, genetics, and inherited metabolic disease.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	16	20	1.2K
2	Health Sciences	5	5	459
3	Public Health	4	4	105
4	Natural Sciences	1	1	24
5	Biochemistry	1	1	24

Esther M. Maier

Publications

3.6K

Citations

H-Index

Page 1

	Year	Citations
Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency Stefan Kölker, Sven F. Garbade, Cheryl R. Greenberg, Pediatric Research NutritionMetabolic DisorderPediatric HematologyTreatment EfficacyHematology	2006	266
Monogenic variants in dystonia: an exome-wide sequencing study Michael Zech, Robert Jech, Sylvia Boesch, The Lancet Neurology Mendelian DisorderGenetic DisorderGeneticsNeuroscienceMonogenic Variants	2020	206
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I Inga Harting, Eva Neumaier‐Probst, Angelika Seitz, Brain	2009	173
Use of guidelines improves the neurological outcome in glutaric aciduria type I Jana Herınger, S. P. Nikolas Boy, Regina Ensenauer, Annals of Neurology	2010	168
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia Michael Zech, Sylvia Boesch, Esther M. Maier, The American Journal of Human Genetics Epigenetic ChangeGeneticsDegenerative DiseaseEarly-onset Generalized DystoniaNeuroscience	2016	160
Genomic investigations of unexplained acute hepatitis in children Sofia Morfopoulou, Sarah Buddle, Oscar Enrique Torres Montaguth, Nature	2023	124
Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature Marjolijn C.J. Jongmans, Erik A. Sistermans, Alwin Rikken, American Journal of Medical Genetics Part A	2005	122
Disease manifestations and X inactivation in heterozygous females with Fabry disease Esther M. Maier, Stephanie Osterrieder, Catharina Whybra, Acta Paediatrica	2006	114
Population spectrum of<i>ACADM</i>genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency Esther M. Maier, Bernhard Liebl, Wulf Röschinger, Human Mutation	2005	111
Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany Stefan Kölker, Sven F. Garbade, Nikolas Boy, Pediatric Research Acute Encephalopathic CrisesNewborn ScreeningNeonatologyPediatric HydrocephalusPediatric Hematology	2007	111

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