heiBIB: Gramer, Gwendolyn

Gramer, Gwendolyn Dr. med.Universität HeidelbergHeidelberg

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englisch (47)
deutsch (8)

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Publikationen in heiBIB

Reischl-Hajiabadi, Anna Theresa: Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias / Anna T. Reischl-Hajiabadi, Elena Schnabel, Florian Gleich, Katharina Mengler, Martin Lindner, Peter … , July 2024. - 16 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 47(2024), 4 vom: Juli, Seite 674-689
DOI: 10.1002/jimd.12731
Maier, Esther M.: Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples / Esther M. Maier, Ulrike Mütze, Nils Janzen, Ulrike Steuerwald, Uta Nennstiel, Birgit Odenwald, Elfri… , 2023. - 20 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. (2023), Seite 1-20
DOI: 10.1002/jimd.12671
Schnabel-Besson, Elena: Combined newborn screening allows comprehensive identification also of attenuated phenotypes for methylmalonic acidurias and homocystinuria / Elena Schnabel, Stefan Kölker, Florian Gleich, Patrik Feyh, Friederike Hörster, Dorothea Haas, Junmi… , 2023. - 15 S. : Illustrationen
In: Nutrients, ISSN 2072-6643. 15(2023), 15, Artikel-ID 3355, Seite 1-15
DOI: 10.3390/nu15153355
Monostori, Péter: Identification of potential interferents of methylmalonic acid : a previously unrecognized pitfall in clinical diagnostics and newborn screening / Péter Monostori, Markus Godejohann, Joachim Janda, Zsolt Galla, Gábor Rácz, Glynis Klinke, Ildikó Sz… , 2023. - 9 S. : Diagramme
In: Clinical biochemistry, ISSN 1873-2933. 111(2023) vom: Jan., Seite 72-80
DOI: 10.1016/j.clinbiochem.2022.09.010
Reischl-Hajiabadi, Anna Theresa: Maternal vitamin B12 deficiency detected by newborn screening : evaluation of causes and characteristics / Anna T. Reischl-Hajiabadi, Sven F. Garbade, Patrik Feyh, Karl Heinz Weiss, Ulrike Mütze, Stefan Kölk… , 13 September 2022. - 17 S.
In: Nutrients, ISSN 2072-6643. 14(2022), 18, Artikel-ID 3767, Seite 1-17
DOI: 10.3390/nu14183767
Sommerburg, Olaf: Final results of the southwest German pilot study on cystic fibrosis newborn screening : evaluation of an IRT/PAP protocol with IRT-dependent safety net / Olaf Sommerburg, Mirjam Stahl, Susanne Hämmerling, Gwendolyn Gramer, Martina U. Muckenthaler, Jürgen… , 2022. - 12 S.
In: Journal of cystic fibrosis, ISSN 1873-5010. 21(2022), 3 vom: Mai, Seite 422-433
DOI: 10.1016/j.jcf.2021.10.007
Gramer, Gwendolyn: Second-tier strategies in newborn screening : potential and limitations / Gwendolyn Gramer and Georg F. Hoffmann, March 14, 2022. - 8 S.
In: Medizinische Genetik, ISSN 1863-5490. 34(2022), 1, Seite 21-28
DOI: 10.1515/medgen-2022-2117
Wegberg, Annemiek M. J. van: Undiagnosed phenylketonuria can exist everywhere : results from an international survey / Annemiek M.J. van Wegberg, MSc, Friedrich Trefz, MD, Maria Gizewska, MD, PhD, Sibtain Ahmed, MBBS, F… , 30 August 2021. - 6 S.
In: The journal of pediatrics, ISSN 1097-6833. 239(2021) Seite 231-234, e1-e2, 6 Seiten
DOI: 10.1016/j.jpeds.2021.08.070
Gramer, Gwendolyn: Implementing a tracking system for confirmatory diagnostic results after positive newborn screening for cystic fibrosis : implications for process quality and patient care / Gwendolyn Gramer, Inken Brockow, Christiane Labitzke, Junmin Fang-Hoffmann, Andreas Beivers, Patrik … , 2021. - 11 S.
In: European journal of pediatrics, ISSN 1432-1076. 180(2021), 4, Seite 1145-1155
DOI: 10.1007/s00431-020-03849-4
Muntau, Ania: Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria : results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial / Ania C. Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Vincenzo Leuzzi, Hatice Serap S… , 03 August 2021. - 11 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 16(2021), Artikel-ID 341, Seite 1-11
DOI: 10.1186/s13023-021-01968-1
Mütze, Ulrike: Health outcomes of infants with vitamin B12 deficiency identified by newborn screening and early treated / Ulrike Mütze, MD, Magdalena Walter, PhD, Mareike Keller, MSc, Gwendolyn Gramer, MD, Sven F. Garbade,… , 11 February 2021. - 7 S.
In: The journal of pediatrics, ISSN 1097-6833. 235(2021) vom: Aug., Seite 42-48
DOI: 10.1016/j.jpeds.2021.02.009
Pilotto, Andrea: Phenylalanine effects on brain function in adult Phenylketonuria / Andrea Pilotto, MD, Carl M. Zipser, MD, Edytha Leks, MD, Dorothea Haas, MD, Gwendolyn Gramer, MD, Pe… , 2021. - 13 S.
In: Neurology, ISSN 1526-632X. 96(2021), 3, Seite e399-e411
DOI: 10.1212/WNL.0000000000011088
Gramer, Gwendolyn: Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening / Gwendolyn Gramer, Georg F. Hoffmann, Julia B. Hennermann, 8 March 2021. - 6 S.
In: Molecular genetics and metabolism reports, ISSN 2214-4269. 27(2021), Artikel-ID 100738, Seite 1-6
DOI: 10.1016/j.ymgmr.2021.100738
Radelfahr, Florentine: Biotinidase deficiency : a treatable cause of hereditary spastic paraparesis / Florentine Radelfahr, Korbinian M. Riedhammer, Leonie F. Keidel, Gwendolyn Gramer, Thomas Meitinger,… , October 13, 2020. - 4 S.
In: Neurology, ISSN 2376-7839. 6(2020), 6, Seite 1-4
DOI: 10.1212/NXG.0000000000000525
Gramer, Gwendolyn: Vitamin-B12-Mangel im Neugeborenen- und Säuglingsalter : Ursachen, Früherkennung, Diagnostik und Vorstellung eines primär oralen Behandlungsschemas / Gwendolyn Gramer, Georg F. Hoffmann, 02 September 2020. - 7 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. ?(2020), Seite 1-7
DOI: 10.1007/s00112-020-01008-5
Grünert, Sarah: Citrin deficiency mimicking mitochondrial depletion syndrome / S.C. Grünert, A. Schumann, P. Freisinger, S. Rosenbaum-Fabian, M. Schmidts, A.J. Mueller, S. Beck-Wö… , 11 November 2020. - 7 S.
In: BMC pediatrics, ISSN 1471-2431. 20(2020), Artikel-ID 518, Seite 1-7
DOI: 10.1186/s12887-020-02409-x
Mütze, Ulrike: Long-term outcomes of individuals with metabolic diseases identified through newborn screening / Ulrike Mütze, MD, Sven F. Garbade, PhD, Gwendolyn Gramer, MD, Martin Lindner, MD, Peter Freisinger, … , October 13, 2020. - 11 S.
In: Pediatrics, ISSN 1098-4275. 146(2020,5) Artikelnummer e20200444, 11 Seiten
DOI: 10.1542/peds.2020-0444
Gramer, Gwendolyn: Vitamin B12 deficiency in newborns and their mothers : novel approaches to early detection, treatment and prevention of a global health issue / Gwendolyn Gramer, Georg F. Hoffmann, 29 October 2020. - 9 S.
In: Current medical science, ISSN 2523-899X. 40(2020), 5, Seite 801-809
DOI: 10.1007/s11596-020-2260-7
Grünert, Sarah: Primary carnitine deficiency : diagnosis after heart transplantation : better late than never! / Sarah C. Grünert, Sara Tucci, Anke Schumann, Meike Schwendt, Gwendolyn Gramer, Georg F. Hoffmann, Mi… , 10 April 2020. - 6 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 15(2020), Artikel-ID 87, Seite 1-6
DOI: 10.1186/s13023-020-01371-2
Cannet, Claire: Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls : results of NMR metabolomics investigation / Claire Cannet, Andrea Pilotto, Júlio César Rocha, Hartmut Schäfer, Manfred Spraul, Daniela Berg, Pet… , 27 February 2020. - 7 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 15(2020), Artikel-ID 61, Seite 1-7
DOI: 10.1186/s13023-020-1329-5
Brennenstuhl, Heiko: High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots / Heiko Brennenstuhl, Dirk Kohlmüller, Gwendolyn Gramer, Sven F. Garbade, Steffen Syrbe, Patrik Feyh, … , 2020. - 9 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 43(2020), 3, Seite 602-610
DOI: 10.1002/jimd.12208
Gramer, Gwendolyn: Newborn screening for vitamin B12 deficiency in Germany : strategies, results, and public health implications / Gwendolyn Gramer, MD, Junmin Fang-Hoffmann, MD, Patrik Feyh, Glynis Klinke, PhD, Peter Monostori, Ph… , 2020. - 12 S.
In: The journal of pediatrics, ISSN 1097-6833. 216(2020) Artikel-Nummer 165-172.e4, 12 Seiten
DOI: 10.1016/j.jpeds.2019.07.052
Keller, Rebecca: Newborn screening for homocystinurias : recent recommendations versus current practice / Rebecca Keller, Petr Chrastina, Markéta Pavlíková, Sofía Gouveia, Antonia Ribes, Stefan Kölker, Henk… , 11 February 2019. - 121 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 1, Seite 128-139
DOI: 10.1002/jimd.12034
Pilotto, Andrea: Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria / Andrea Pilotto, Nenad Blau, Edytha Leks, Claudia Schulte, Christian Deuschl, Carl Zipser, David Piel… , 01 February 2019. - 9 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 3, Seite 398-406
DOI: 10.1002/jimd.12049
Gramer, Gwendolyn: High incidence of maternal vitamin B12 deficiency detected by newborn screening : first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel / Gwendolyn Gramer, Junmin Fang-Hoffmann, Patrik Feyh, Glynis Klinke, Peter Monostori, Jürgen G. Okun,… , 15 June 2018. - 12 S.
In: World journal of pediatrics, ISSN 1867-0687. 14(2018), 5, Seite 470-481
DOI: 10.1007/s12519-018-0159-1
Gramer, Gwendolyn: Früherkennung eines Vitamin-B12-Mangels im Neugeborenenscreening / G. Gramer, G.F. Hoffmann, 05 January 2018. - 2 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 166(2018), 2, Seite 152-153
Chapman, Kimberly A.: Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data / Kimberly A. Chapman, Gwendolyn Gramer, Sarah Viall, Marshall L. Summar, [June 2018]. - 4 S.
In: Molecular genetics and metabolism reports, ISSN 2214-4269. 15(2018), Seite 106-109
DOI: 10.1016/j.ymgmr.2018.03.011
Vliet, Danique van: Can untreated PKU patients escape from intellectual disability? : a systematic review / Danique van Vliet, Annemiek M.J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, … . -
London: BioMed Central, 29 August 2018. - 1 Online-Ressource (6 Seiten)
DOI: 10.1186/s13023-018-0890-7
Gramer, Gwendolyn: 50 Jahre Neugeborenenscreening in Deutschland : Bisherige Ergebnisse und zukünftige Herausforderungen / G. Gramer, U. Nennstiel-Ratzel, G.F. Hoffmann, 2018. - 7 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 166(2018), 11, Seite 987-993
DOI: 10.1007/s00112-017-0355-4
Muntau, Ania: Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years : results from the SPARK open-label, multicentre, randomized phase IIIb trial / Ania C. Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Corinne De Laet, Vincenzo Leuzz… , 9 March 2017. - 11 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 12(2017), Artikel-ID 47, Seite 1-11
DOI: 10.1186/s13023-017-0600-x
Gramer, Gwendolyn: Optic disc drusen and family history of Glaucoma : results of a patient-directed survey / Gwendolyn Gramer, Eugen Gramer, Nicole Weisschuh, 2017. - 7 S.
In: Journal of glaucoma, ISSN 1536-481X. 26(2017), 10, Seite 940-946
DOI: 10.1097/IJG.0000000000000750
Gramer, Gwendolyn: Stage of visual field loss and age at diagnosis in 1988 patients with different glaucomas : implications for glaucoma screening and driving ability / Gwendolyn Gramer, Eugen Gramer, 2018. - 13 S.
In: International ophthalmology, ISSN 1573-2630. 38(2018), 2, Seite 429-441
DOI: 10.1007/s10792-017-0477-7
Gramer, Gwendolyn: Newborn screening for remethylation disorders and vitamin B<Subscript>12</Subscript> deficiency-evaluation of new strategies in cohorts from Qatar and Germany / Gwendolyn Gramer, Ghassan Abdoh, Tawfeg Ben-Omran, Noora Shahbeck, Rehab Ali, Laila Mahmoud, Junmin … . - 8 S.
In: World journal of pediatrics, ISSN 1867-0687. 13(2017), 2, S. 136-143
DOI: 10.1007/s12519-017-0003-z
Gramer, Gwendolyn: Neugeborenenscreening 2020 : Perspektiven der Krankheitsfrüherkennung / G. Gramer, F. Hauck, S. Lobitz, O. Sommerburg, C. Speckmann, G. F. Hoffmann. - 10 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 165(2017), 3, S. 216-225
DOI: 10.1007/s00112-016-0233-5
Monostori, Péter: Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots : Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders / Péter Monostori, Glynis Klinke, Sylvia Richter, Ákos Baráth, Ralph Fingerhut, Matthias R. Baumgartne… , September 15, 2017. - 16 S.
In: PLOS ONE, ISSN 1932-6203. 12(2017,9) Artikel-Nummer e0184897, 16 Seiten
DOI: 10.1371/journal.pone.0184897
Gramer, Gwendolyn: Long-chain polyunsaturated fatty acid status in children, adolescents and adults with phenylketonuria / Gwendolyn Gramer, Gisela Haege, Claus-Dieter Langhans, Vera Schuhmann, Peter Burgard, Georg F. Hoffm… , 18 April 2016. - 6 S.
In: Prostaglandins, leukotrienes and essential fatty acids, ISSN 1532-2823. 109(2016), Seite 52-57
DOI: 10.1016/j.plefa.2016.04.005
Staufner, Christian: Genetic cause and prevalence of hydroxyprolinemia / Christian Staufner, Tobias B. Haack, Patrik Feyh, Gwendolyn Gramer, Deepthi Ediga Raga, Caterina Ter… , 2 May 2016. - 8 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 39(2016), 5, Seite 625-632
DOI: 10.1007/s10545-016-9940-2
Gramer, Gwendolyn: Medium-chain Acyl-CoA dehydrogenase deficiency : evaluation of genotype-phenotype correlation in patients detected by newborn screening / Gwendolyn Gramer, Gisela Haege, Junmin Fang-Hoffmann, Georg F. Hoffmann, Claus R. Bartram, Katrin Hi… , 05 May 2015. - 12 S.
In: JIMD reports, ISSN 2192-8312. 23(2015), Seite 101-112
DOI: 10.1007/8904_2015_439
Gramer, Gwendolyn: Migraine and vasospasm in glaucoma : age-related evaluation of 2027 patients with glaucoma or ocular hypertension / Gwendolyn Gramer, Bernhard H. F. Weber and Eugen Gramer, 2015. - 9 S.
In: Investigative ophthalmology & visual science, ISSN 1552-5783. 56(2015), 13, Seite 7999-8007
DOI: 10.1167/iovs.15-17274
Stendel, Claudia: Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene / Claudia Stendel, Constanze Gallenmüller, Katrin Peters, Friederike Bürger, Gwendolyn Gramer, Saskia … , 11 April 2015. - 2 S.
In: Journal of neurology, ISSN 1432-1459. 262(2015), 4, Seite 1072-1073
DOI: 10.1007/s00415-015-7729-0
Kunz, Joachim: Significant prevalence of sickle cell disease in Southwest Germany : results from a birth cohort study indicate the necessity for newborn screening / Joachim B. Kunz, Saida Awad, Margit Happich, Lena Muckenthaler, Martin Lindner, Gwendolyn Gramer, Jü… , 2016. - 6 S.
In: Annals of hematology, ISSN 1432-0584. 95(2016), 3, Seite 397-402
DOI: 10.1007/s00277-015-2573-y
Gramer, Gwendolyn: Diagnostik, Therapie und Langzeitentwicklung von Patienten mit angeborenen Stoffwechselstörungen unter besonderer Berücksichtigung des Neugeborenenscreenings / vorgelegt von Gwendolyn Christine Gramer, 2014 [ersch.] 2015. - Getr. Zählung : Ill., graph. Darst.
Gramer, Gwendolyn: Erratum zu: Metabolische Notfalltherapie / G. Gramer, G.F. Hoffmann, S. Kölker. - 1 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 162(2014), 2, S. 155-155
DOI: 10.1007/s00112-013-3065-6
Gramer, Gwendolyn: Results of a patient-directed survey on frequency of family history of glaucoma in 2170 patients / Gramer, Gwendolyn; Weber, Bernhard H. F.; Gramer, Eugen, 2014. - 6 S.
In: Investigative ophthalmology & visual science, ISSN 1552-5783. 55(2014), 1, Seite 259-264
DOI: 10.1167/iovs.13-13020
Gramer, Gwendolyn: Living with an inborn error of metabolism detected by newborn screening—Parents’ perspectives on child development and impact on family life / Gwendolyn Gramer, Gisela Haege, Esther M. Glahn, Georg F. Hoffmann, Martin Lindner, Peter Burgard, 2014. - 7 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 37(2014), 2, Seite 189-195
DOI: 10.1007/s10545-013-9639-6
Gramer, Gwendolyn: Visual functions in phenylketonuria : evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses / Gwendolyn Gramer, Birgit Förl, Christina Springer, Petra Weimer, Gisela Haege, Friederike Mackensen,… , January 2013. - 7 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 108(2013), 1, Seite 1-7
DOI: 10.1016/j.ymgme.2012.10.021
Gramer, Gwendolyn: Metabolische Notfalltherapie : Praktische Umsetzung im klinischen Alltag / G. Gramer, G.F. Hoffmann, S. Kölker. - 16 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 161(2013), 7, S. 645-660
DOI: 10.1007/s001120132939y
Gramer, Gwendolyn: Glucose transporter-1 (GLUT1) deficiency syndrome : diagnosis and treatment in late childhood / Gwendolyn Gramer, Nicole I. Wolf, Daniel Vater, Thomas Bast, René Santer, Erik-Jan Kamsteeg, Ron A. … , 2012. - 4 S.
In: Neuropediatrics, ISSN 0174-304X. 43(2012), 3 vom: 19. Juni, Seite 168-171
Reiter, Constantin Wei-te Caspar: Pseudoexfoliationssyndrom : Fehlen der zentralen Zone des Pseudoexfoliations-Materials bei Patienten mit Pseudophakie : eine klinische Studie / C. Reiter, E. Gramer, G. Gramer. - 5 S.
In: Klinische Monatsblätter für Augenheilkunde, ISSN 1439-3999. 229(2012), 03, S. 241-245
DOI: 10.1055/s-0031-1281817
Gramer, Eugen: Glaucoma and frequency of ocular and general diseases in 30 patients with Aniridia : a clinical study / Eugen Gramer, Constantin Reiter, Gwendolyn Gramer. - 7 S.
In: European journal of ophthalmology, ISSN 1724-6016. 22(2012), 1, S. 104-110
DOI: 10.5301/EJO.2011.8318
Schneider, Evelin: Visual fields, visual acuity, and driving performance in patients with pituitary adenoma before and after surgery / Evelin Schneider, Gwendolyn Gramer, Marc Schargus & Eugen Gramer, 02 Dec 2011. - 5 S.
In: Neuro-ophthalmology, ISSN 1744-506X. 35(2011), 5-6 vom: Dez., Seite 259-263
DOI: 10.3109/01658107.2011.623812
Lindner, Martin: Efficacy and outcome of expanded newborn screening for metabolic diseases : report of 10 years from South-West Germany / Martin Lindner, Gwendolyn Gramer, Gisela Haege, Junmin Fang-Hoffmann, Karl O. Schwab, Uta Tacke, Fri… , 2011. - 10 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 6(2011), Artikel-ID 44, Seite 1-10
DOI: 10.1186/1750-1172-6-44
Wolf, Christiane: Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma / Christiane Wolf, Eugen Gramer, Bertram Müller-Myhsok, Francesca Pasutto, Gwendolyn Gramer, Bernd Wis… , February 2010. - 6 S.
In: Journal of glaucoma, ISSN 1536-481X. 19(2010), 2 vom: Feb., Seite 136-141
DOI: 10.1097/IJG.0b013e31819f9330

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