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E. Maier · SciRah

Researcher profile · Semantic Scholar

E. Maier

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E. Maier — researcher profile on SciRah

h-index: 32
Works: 84
Citations: 3,170

Most-cited papers

Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency
S. Kolker, S. Garbade, C. Greenberg, James V. Leonard +25 more
2006Pediatric Research264 citations Open access
Semantic Scholar
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision
N. Boy, C. Mühlhausen, E. Maier, Jana Heringer +17 more
2017Journal of Inherited Metabolic Disease211 citations
Semantic Scholar
Monogenic variants in dystonia: an exome-wide sequencing study
M. Zech, R. Jech, S. Boesch, M. Škorvánek +107 more
2020Lancet Neurology190 citations Open access
Semantic Scholar
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.
I. Harting, E. Neumaier-Probst, A. Seitz, E. Maier +9 more
2009Brain : a journal of neurology163 citations Open access
Semantic Scholar
Use of guidelines improves the neurological outcome in glutaric aciduria type I
Jana Heringer, S. P. Nikolas Boy, R. Ensenauer, B. Assmann +9 more
2010Annals of Neurology161 citations
Semantic Scholar
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.
M. Zech, S. Boesch, E. Maier, I. Borggraefe +11 more
2016American Journal of Human Genetics154 citations Open access
Semantic Scholar
Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany
S. Kolker, S. Garbade, N. Boy, E. Maier +11 more
2007Pediatric Research106 citations
Semantic Scholar
Newborn screening: A disease‐changing intervention for glutaric aciduria type 1
N. Boy, Katharina Mengler, E. Thimm, Katharina A. Schiergens +20 more
2018Annals of Neurology100 citations Open access
Semantic Scholar
Newborn screening for 3‐methylcrotonyl‐CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment
S. Stadler, R. Polanetz, E. Maier, Sylvia C. Heidenreich +22 more
2006Human Mutation89 citations
Semantic Scholar
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects
M. Rujano, Magda Cannata Serio, G. Panasyuk, Romain Péanne +23 more
2017Journal of Experimental Medicine81 citations Open access
Semantic Scholar
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision
N. Boy, C. Mühlhausen, E. Maier, D. Ballhausen +30 more
2022Journal of Inherited Metabolic Disease80 citations Open access
Semantic Scholar
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
E. Mengel, M. Patterson, R. D. Da Riol, M. del Toro +19 more
2021Journal of Inherited Metabolic Disease78 citations Open access
Semantic Scholar
Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation
E. Maier, Stefan Kammerer, A. Muntau, M. Wichers +2 more
2002Annals of Neurology78 citations
Semantic Scholar
Disease manifestations and X inactivation in heterozygous females with Fabry disease.
E. Maier, S. Osterrieder, C. Whybra, M. Ries +4 more
200669 citations
Semantic Scholar
Disease manifestations and X inactivation in heterozygous females with Fabry disease
E. Maier, S. Osterrieder, C. Whybra, M. Ries +4 more
2006Acta paediatrica66 citations
Semantic Scholar
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.
U. Nennstiel-Ratzel, S. Arenz, E. Maier, I. Knerr +6 more
2005Molecular Genetics and Metabolism65 citations
Semantic Scholar
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)
D. Karall, M. Brunner‐Krainz, Katharina Kogelnig, V. Konstantopoulou +6 more
2015Orphanet Journal of Rare Diseases61 citations Open access
Semantic Scholar
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
S. C. Grünert, T. Derks, Katarina Adrian, K. Al-Thihli +60 more
2022Genetics in Medicine60 citations Open access
Semantic Scholar
Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening
E. Maier, S. Gersting, K. Kemter, Johanna M. Jank +5 more
2009Human Molecular Genetics60 citations Open access
Semantic Scholar
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters
F. Hörster, S. Garbade, T. Zwickler, Halil İbrahim Aydın +17 more
2009Journal of Inherited Metabolic Disease59 citations
Semantic Scholar
Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene
M. Coenen, L. P. van den Heuvel, C. Ugalde, Marike ten Brinke +6 more
2004Annals of Neurology56 citations
Semantic Scholar
Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.
S. Kolker, S. P. Nikolas Boy, Jana Heringer, Edith Müller +9 more
2012Molecular Genetics and Metabolism53 citations
Semantic Scholar
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Y. Murakami, T. Nguyen, N. Baratang, P. K. Raju +41 more
2019American Journal of Human Genetics51 citations Open access
Semantic Scholar
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres
T. Zwickler, M. Lindner, H. I. Aydın, M. Baumgartner +17 more
2008Journal of Inherited Metabolic Disease42 citations Open access
Semantic Scholar
Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns.
R. Ensenauer, R. Fingerhut, E. Maier, R. Polanetz +3 more
2011Clinical Chemistry40 citations Open access
Semantic Scholar
Lung function of school children with low levels of α1-antitrypsin and tobacco smoke exposure
O. V. von Ehrenstein, E. von Mutius, E. Maier, T. Hirsch +6 more
2002European Respiratory Journal40 citations Open access
Semantic Scholar
A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis
R. Santer, M. du Moulin, Tatevik Shahinyan, I. Vater +3 more
2016Orphanet Journal of Rare Diseases38 citations Open access
Semantic Scholar
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
Nazanin Mirza-Schreiber, M. Zech, R. Wilson, T. Brunet +24 more
2021Brain : a journal of neurology37 citations Open access
Semantic Scholar
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype
J. Koch, P. Freisinger, R. Feichtinger, F. Zimmermann +10 more
2015Orphanet Journal of Rare Diseases36 citations Open access
Semantic Scholar
Simultaneous quantitative and allele-specific expression analysis with real competitive PCR
Chunming Ding, E. Maier, A. Roscher, A. Braun +1 more
2004BMC Genetics36 citations Open access
Semantic Scholar
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
U. Mütze, L. Henze, F. Gleich, M. Lindner +23 more
2021Journal of Inherited Metabolic Disease35 citations Open access
Semantic Scholar
Issues with European guidelines for phenylketonuria.
P. Burgard, K. Ullrich, D. Ballhausen, J. Hennermann +13 more
2017The Lancet Diabetes and Endocrinology32 citations Open access
Semantic Scholar
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
E. M. Charlotte Märtner, E. Thimm, P. Guder, Katharina A. Schiergens +20 more
2021Scientific Reports31 citations Open access
Semantic Scholar
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
A. Lotz-Havla, W. Röschinger, Katharina A. Schiergens, Katharina Singer +4 more
2018Orphanet Journal of Rare Diseases31 citations Open access
Semantic Scholar
X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype.
E. Maier, Peter U. Mayerhofer, Muriel Asheuer, Wolfgang Köhler +6 more
2008Biochemical and Biophysical Research Communications - BBRC31 citations
Semantic Scholar
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Pauline E. Schneeberger, F. Kortüm, G. Korenke, M. Alawi +41 more
2020Brain : a journal of neurology30 citations Open access
Semantic Scholar
Low lysine diet in glutaric aciduria type I – effect on anthropometric and biochemical follow-up parameters
N. Boy, Gisela Haege, Jana Heringer, B. Assmann +8 more
2013Journal of Inherited Metabolic Disease29 citations
Semantic Scholar
α1 Antitrypsin and the prevalence and severity of asthma
O. V. von Ehrenstein, E. Maier, S. Weiland, D. Carr +4 more
2004Archives of Disease in Childhood28 citations Open access
Semantic Scholar
Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study
E. Mengel, B. Bembi, M. del Toro, F. Deodato +17 more
2020Orphanet Journal of Rare Diseases25 citations Open access
Semantic Scholar
Retinal axonal degeneration in Niemann–Pick type C disease
J. Havla, M. Moser, C. Sztatecsny, A. Lotz-Havla +7 more
2020Journal of Neurology23 citations Open access
Semantic Scholar
The Domain-Specific and Temperature-Dependent Protein Misfolding Phenotype of Variant Medium-Chain acyl-CoA Dehydrogenase
Johanna M. Jank, E. Maier, Dunja D. Reiß, M. Haslbeck +7 more
2014PLoS ONE23 citations Open access
Semantic Scholar
Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study
E. M. Charlotte Märtner, E. Maier, Katharina Mengler, E. Thimm +23 more
2020Journal of Inherited Metabolic Disease21 citations Open access
Semantic Scholar
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria
K. Grohmann-Held, P. Burgard, Christoph G. O. Baerwald, S. Beblo +29 more
2022Journal of Inherited Metabolic Disease18 citations Open access
Semantic Scholar
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated
Katharina A. Schiergens, M. Staudigl, I. Borggraefe, E. Maier
2018Neuropediatrics17 citations
Semantic Scholar
Maple syrup urine disease: newborn screening fails to discriminate between classic and variant forms.
R. Fingerhut, E. Simon, E. Maier, J. Hennermann +1 more
2008Clinical Chemistry17 citations
Semantic Scholar
Prenatal diagnosis of X‐linked adrenoleukodystrophy combining biochemical, immunocytochemical and DNA analyses
E. Maier, A. Roscher, Stefan Kammerer, K. Mehnert +2 more
1999Prenatal Diagnosis16 citations
Semantic Scholar
Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experience
Katharina A. Schiergens, Katharina J. Weiss, W. Röschinger, A. Lotz-Havla +6 more
2021Molecular Genetics and Metabolism Reports15 citations Open access
Semantic Scholar
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
E. Maier, U. Mütze, N. Janzen, U. Steuerwald +21 more
2023Journal of Inherited Metabolic Disease14 citations Open access
Semantic Scholar
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families
Johannes Spenger, E. Maier, Katharina Wechselberger, F. Bauder +10 more
2021International Journal of Neonatal Screening14 citations Open access
Semantic Scholar
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment
U. Mütze, L. Henze, J. Schröter, F. Gleich +20 more
2023Journal of Inherited Metabolic Disease13 citations Open access
Semantic Scholar

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