Esther M Maier

Esther M Maier

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Esther M Maier

Esther M Maier

Publications by authors named "Esther M Maier"

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34Publications

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Management of three preterm infants with phenylketonuria.

Nutrition 2020 Mar 17;71:110619. Epub 2019 Oct 17.

Dr. von Hauner Children's Hospital, Department of Inborn Errors of Metabolism, Ludwig-Maximilians-University, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.nut.2019.110619DOI Listing
March 2020

Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.

Neuropediatrics 2018 12 28;49(6):363-368. Epub 2018 Jun 28.

Department of Inborn Errors of Metabolism, Ludwig-Maximilians University of Munich, Dr. von Hauner Children's Hospital, Munich, Germany.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1661415
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http://dx.doi.org/10.1055/s-0038-1661415DOI Listing
December 2018

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Orphanet J Rare Dis 2018 07 20;13(1):122. Epub 2018 Jul 20.

Department of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Lindwurmstr. 4, 80337, Munich, Germany.

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http://dx.doi.org/10.1186/s13023-018-0875-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053800PMC
July 2018

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

J Inherit Metab Dis 2017 01 16;40(1):75-101. Epub 2016 Nov 16.

Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://link.springer.com/10.1007/s10545-016-9999-9
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http://dx.doi.org/10.1007/s10545-016-9999-9DOI Listing
January 2017

Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.

Am J Hum Genet 2016 Dec 10;99(6):1377-1387. Epub 2016 Nov 10.

Institut für Neurogenomik, Helmholtz Zentrum München, 85764 Munich, Germany; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany; Institut für Humangenetik, Technische Universität München, 81675 Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, 81377 Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142117PMC
December 2016

Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.

J Inherit Metab Dis 2013 May 13;36(3):525-33. Epub 2012 Sep 13.

Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany.

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http://link.springer.com/10.1007/s10545-012-9517-7
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http://dx.doi.org/10.1007/s10545-012-9517-7DOI Listing
May 2013

What are effects of a spaced activation of virtual patients in a pediatric course?

BMC Med Educ 2013 Mar 28;13:45. Epub 2013 Mar 28.

University Children's Hospital Salzburg, Salzburg, Austria.

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http://dx.doi.org/10.1186/1472-6920-13-45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3639235PMC
March 2013

Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns.

Clin Chem 2011 Apr 18;57(4):623-6. Epub 2011 Feb 18.

Dr. von Hauner Children's Hospital, Children's Research Centre, Ludwig-Maximilians-Universität, Munich, Germany.

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http://www.clinchem.org/cgi/doi/10.1373/clinchem.2010.151134
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http://dx.doi.org/10.1373/clinchem.2010.151134DOI Listing
April 2011

Use of guidelines improves the neurological outcome in glutaric aciduria type I.

Ann Neurol 2010 Nov;68(5):743-52

Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany.

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http://doi.wiley.com/10.1002/ana.22095
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http://dx.doi.org/10.1002/ana.22095DOI Listing
November 2010

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening.

Hum Mol Genet 2009 May 18;18(9):1612-23. Epub 2009 Feb 18.

Department of Molecular Pediatrics, Children's Research Center, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.

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http://dx.doi.org/10.1093/hmg/ddp079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2667288PMC
May 2009

[Breaking bad news--a video-based training unit for medical students].

Z Kinder Jugendpsychiatr Psychother 2009 Mar;37(2):139-44

Klinik für Kinder- und Jugendpsychiatrie, Psychosomatik und Psychotherapie, Klinikum der Universität München.

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https://econtent.hogrefe.com/doi/10.1024/1422-4917.37.2.139
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http://dx.doi.org/10.1024/1422-4917.37.2.139DOI Listing
March 2009

X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype.

Biochem Biophys Res Commun 2008 Dec 1;377(1):176-80. Epub 2008 Oct 1.

Department of Biochemical Genetics and Molecular Biology, Dr von Hauner Children's Hospital, Research Center, Ludwig-Maximilians-University, Munich, Germany.

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http://dx.doi.org/10.1016/j.bbrc.2008.09.092DOI Listing
December 2008

Disease manifestations and X inactivation in heterozygous females with Fabry disease.

Acta Paediatr Suppl 2006 Apr;95(451):30-8

Research Centre, Department of Biochemical Genetics and Molecular Biology, Dr von Hauner Children's Hospital, Ludwig-Maximilian University, Munich, Germany.

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http://dx.doi.org/10.1080/08035320600618809DOI Listing
April 2006

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.

Hum Mutat 2005 May;25(5):443-52

Research Center, Department of Biochemical Genetics and Molecular Biology, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.

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http://doi.wiley.com/10.1002/humu.20163
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http://dx.doi.org/10.1002/humu.20163DOI Listing
May 2005

Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.

Am J Med Genet A 2005 Apr;134A(2):165-70

Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.30598DOI Listing
April 2005

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.

Ann Neurol 2004 Oct;56(4):560-4

Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, University Medical Centre Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ana.20229DOI Listing
October 2004

Evidence against the adrenoleukodystrophy-related gene acting as a modifier of X-adrenoleukodystrophy.

Adv Exp Med Biol 2003 ;544:95-6

Dr. Von Hauner Children 's Hospital, Ludwig-Maximilians-University Munich, Lindwurmstrasse 4, 80447 Munich, Germany.

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http://dx.doi.org/10.1007/978-1-4419-9072-3_13DOI Listing
July 2004

True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene.

J Pediatr Endocrinol Metab 2003 Apr-May;16(4):575-80

Children's Hospital, Germany.

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http://dx.doi.org/10.1515/jpem.2003.16.4.575DOI Listing
July 2003

Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation.

Ann Neurol 2002 Nov;52(5):683-8

Laboratory of Molecular Biology, Dr von Hauner Children's Hospital, University of Munich, Lindwurmstrasse 4, 80337 Munich, Germany.

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http://dx.doi.org/10.1002/ana.10376DOI Listing
November 2002

Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency.

Am J Hum Genet 2002 Jan 21;70(1):20-5. Epub 2001 Nov 21.

Department of Pediatrics, Division of Clinical Chemistry and Metabolism, Dr. v. Hauner Children's Hospital, Ludwig-Maximilian-University, Munich, Germany.

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http://dx.doi.org/10.1086/338456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC384888PMC
January 2002