Gwendolyn Gramer

Gwendolyn Gramer

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Gwendolyn Gramer

Gwendolyn Gramer

Publications by authors named "Gwendolyn Gramer"

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26Publications

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Newborn Screening for Vitamin B Deficiency in Germany-Strategies, Results, and Public Health Implications.

J Pediatr 2019 Oct 8. Epub 2019 Oct 8.

Division of Neuropaediatrics and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.jpeds.2019.07.052DOI Listing
October 2019

Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria.

J Inherit Metab Dis 2019 May 1;42(3):398-406. Epub 2019 Feb 1.

Department of Pediatrics, Division for Neuropediatrics and Metabolic Medicine, University of Heidelberg, Heidelberg, Germany.

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http://doi.wiley.com/10.1002/jimd.12049
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http://dx.doi.org/10.1002/jimd.12049DOI Listing
May 2019

High incidence of maternal vitamin B deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel.

World J Pediatr 2018 Oct 15;14(5):470-481. Epub 2018 Jun 15.

Division of Neuropediatric and Metabolic Medicine, Department of General Pediatrics, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s12519-018-0159-1DOI Listing
October 2018

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data.

Mol Genet Metab Rep 2018 Jun 5;15:106-109. Epub 2018 Apr 5.

Children's National Rare Disease Institute and Children's Research Institute, Washington DC, United States.

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http://dx.doi.org/10.1016/j.ymgmr.2018.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047110PMC
June 2018

Stage of visual field loss and age at diagnosis in 1988 patients with different glaucomas: implications for glaucoma screening and driving ability.

Int Ophthalmol 2018 Apr 27;38(2):429-441. Epub 2017 Feb 27.

University Eye Hospital, University of Würzburg, Würzburg, Germany.

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http://dx.doi.org/10.1007/s10792-017-0477-7DOI Listing
April 2018

Optic Disc Drusen and Family History of Glaucoma-Results of a Patient-directed Survey.

J Glaucoma 2017 Oct;26(10):940-946

*Department of General Paediatrics, Centre for Paediatric and Adolescent Medicine, Division of Neuropaediatrics and Metabolic Medicine, University of Heidelberg, Heidelberg, Germany †University of Würzburg, University Eye Hospital, Würzburg, Germany ‡Molecular Genetics Laboratory, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1097/IJG.0000000000000750DOI Listing
October 2017

Newborn screening for remethylation disorders and vitamin B deficiency-evaluation of new strategies in cohorts from Qatar and Germany.

World J Pediatr 2017 Apr 15;13(2):136-143. Epub 2017 Jan 15.

University of Heidelberg, Center for Pediatric and Adolescent Medicine, Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s12519-017-0003-zDOI Listing
April 2017

Genetic cause and prevalence of hydroxyprolinemia.

J Inherit Metab Dis 2016 09 2;39(5):625-632. Epub 2016 May 2.

Department of General Pediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120, Heidelberg, Germany.

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http://doi.wiley.com/10.1007/s10545-016-9940-2
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http://dx.doi.org/10.1007/s10545-016-9940-2DOI Listing
September 2016

Long-chain polyunsaturated fatty acid status in children, adolescents and adults with phenylketonuria.

Prostaglandins Leukot Essent Fatty Acids 2016 06 26;109:52-7. Epub 2016 Apr 26.

Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.plefa.2016.04.005DOI Listing
June 2016

Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening.

Ann Hematol 2016 Feb 12;95(3):397-402. Epub 2015 Dec 12.

Department of Pediatric Oncology, Hematology, Oncology and Immunology, University of Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s00277-015-2573-yDOI Listing
February 2016

Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene.

J Neurol 2015 11;262(4):1072-3. Epub 2015 Apr 11.

Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, 80336, Munich, Germany,

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http://dx.doi.org/10.1007/s00415-015-7729-0DOI Listing
January 2016

Migraine and Vasospasm in Glaucoma: Age-Related Evaluation of 2027 Patients With Glaucoma or Ocular Hypertension.

Invest Ophthalmol Vis Sci 2015 Dec;56(13):7999-8007

University Eye Hospital, University of Wuerzburg, Wuerzburg, Germany.

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http://dx.doi.org/10.1167/iovs.15-17274DOI Listing
December 2015

Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.

JIMD Rep 2015 5;23:101-12. Epub 2015 May 5.

Department of General Paediatrics, Division for Neuropaediatrics and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University of Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany,

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http://dx.doi.org/10.1007/8904_2015_439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4484909PMC
June 2015

Living with an inborn error of metabolism detected by newborn screening-parents' perspectives on child development and impact on family life.

J Inherit Metab Dis 2014 Mar 16;37(2):189-95. Epub 2013 Aug 16.

Department of General Paediatrics, Division of Metabolic Disorders, Centre for Paediatric and Adolescent Medicine, University of Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany,

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http://dx.doi.org/10.1007/s10545-013-9639-6DOI Listing
March 2014

Results of a patient-directed survey on frequency of family history of glaucoma in 2170 patients.

Invest Ophthalmol Vis Sci 2014 Jan 13;55(1):259-64. Epub 2014 Jan 13.

Centre for Paediatric and Adolescent Medicine, Division for Metabolic Disorders, University of Heidelberg, Germany.

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http://dx.doi.org/10.1167/iovs.13-13020DOI Listing
January 2014

Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses.

Mol Genet Metab 2013 Jan 30;108(1):1-7. Epub 2012 Oct 30.

Centre for Paediatric and Adolescent Medicine, University of Heidelberg, Department of General Paediatrics, Division of Metabolic Disorders, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.ymgme.2012.10.021DOI Listing
January 2013

Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood.

Neuropediatrics 2012 Jun 23;43(3):168-71. Epub 2012 May 23.

Division of Metabolic Disorders, Department of General Paediatrics, Centre for Paediatric and Adolescent Medicine, Heidelberg, Germany.

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http://dx.doi.org/10.1055/s-0032-1315433DOI Listing
June 2012

Glaucoma and frequency of ocular and general diseases in 30 patients with aniridia: a clinical study.

Eur J Ophthalmol 2012 Jan-Feb;22(1):104-10

Department of Ophthalmology, University Würzburg, Würzburg, Germany.

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http://dx.doi.org/10.5301/EJO.2011.8318DOI Listing
February 2012

Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation.

Case Rep Med 2010 21;2010:621984. Epub 2010 Mar 21.

Department of Pediatric Dentistry, Dental School, University of Marburg, Georg-Voigt-Str. 3, 35033 Marburg, Germany.

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http://dx.doi.org/10.1155/2010/621984DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2842968PMC
July 2011

Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma.

J Glaucoma 2010 Feb;19(2):136-41

Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Eberhard-Karls-University, Tuebingen, Germany.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/IJG.0b013e31819f9330DOI Listing
February 2010