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Author Details

Esther M Maier
Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University
1996
74
26
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36221165Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.J Inherit Metab Dis2023
37603033Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.J Inherit Metab Dis2023
37429829Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.J Inherit Metab Dis2023
36840705Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.Clin Genet2023
36902816Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia.J Clin Med2023
34590685Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.Brain2022
35503103Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.Genet Med2022
36247773Serum glial fibrillary acidic protein and neurofilament light chain in patients with early treated phenylketonuria.Front Neurol2022
36054426Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.J Inherit Metab Dis2022
352406343.19 Inborn Errors of Metabolism.World Rev Nutr Diet2022
33274439Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.J Inherit Metab Dis2021
33496032Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.J Inherit Metab Dis2021
35076458Correction: 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>, 32.Int J Neonatal Screen2021
34956063Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase Deficiency.Front Neurol2021
34588557The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.Sci Rep2021
34642359Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.Sci Rep2021
34418116Efficacy 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.J Inherit Metab Dis2021
34074315Correction to: Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.Orphanet J Rare Dis2021
34178604Newborn 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.Mol Genet Metab Rep2021
34207159Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.Int J Neonatal Screen2021
33980297Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections.Orphanet J Rare Dis2021
32222928Retinal axonal degeneration in Niemann-Pick type C disease.J Neurol2020
31864970Management of three preterm infants with phenylketonuria.Nutrition2020
33228797Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.Orphanet J Rare Dis2020
33098801Monogenic variants in dystonia: an exome-wide sequencing study.Lancet Neurol2020
32683363Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots.Ann Nutr Metab2020
32542434[Dietary treatment of inborn errors of metabolism-a balancing act between indulgence and therapy].Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz2020
31332084Multiple foraminal compression in a child with sialidosis type 2.Neurology2019
31256876Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.Am J Hum Genet2019
29665094Newborn screening: A disease-changing intervention for glutaric aciduria type 1.Ann Neurol2018
30029694Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.Orphanet J Rare Dis2018
29954013Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.Neuropediatrics2018
27853989Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.J Inherit Metab Dis2017
29127204Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects.J Exp Med2017
28842158Issues with European guidelines for phenylketonuria.Lancet Diabetes Endocrinol2017
27101822A 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.Orphanet J Rare Dis2016
27839873Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.Am J Hum Genet2016
25887401Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.Orphanet J Rare Dis2015
25888220Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).Orphanet J Rare Dis2015
24718418The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase.PLoS One2014
22971958Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.J Inherit Metab Dis2013
23537162What are effects of a spaced activation of virtual patients in a pediatric course?BMC Med Educ2013
22520952Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.Mol Genet Metab2012
21335445Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns.Clin Chem2011
21031586Use of guidelines improves the neurological outcome in glutaric aciduria type I.Ann Neurol2010
19224950Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening.Hum Mol Genet2009
19642010Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.J Inherit Metab Dis2009
19780764Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected].Clin Genet2009
19433437Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.Brain2009
19402001[Breaking bad news--a video-based training unit for medical students].Z Kinder Jugendpsychiatr Psychother2009
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Collaborators

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Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 5
University Children's Hospital Munster
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Institute of Clinical Neuroimmunology, LMU Hospital, Ludwig Maximilians University
Co-authored papers 4
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California Institute of Technology
Co-authored papers 1
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University Lille, CNRS
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CNRS, Universite de Lille
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Center for Human Genetics
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Institute of Molecular Biosciences, Goethe University Frankfurt
Co-authored papers 1
Centro Hospitalar e Universitario de Coimbra
Co-authored papers 1
German Research Center for Cardiovascular Disease (DZHK)
Co-authored papers 1
INSERM UMR3, Institut IMAGINE
Co-authored papers 1
Sanford-Burnham-Prebys Medical Discovery Institute
Co-authored papers 1
Boston Children's Hospital, Harvard Medical School
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Umea University
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University of Washington School of Medicine
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King Faisal Specialist Hospital and Research Center
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Institute for Genomic Statistics and Bioinformatics, University of Bonn
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Royal Devon University Healthcare NHS Foundation Trust
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Medical University of Warsaw
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