Research ExplorerScientific StaffGwendolyn Gramer Publications

Prof.Dr.med. ID: 21009346

Gwendolyn Gramer

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Publications

  1. 2024

  2. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

    Posset, R., Garbade, S. F., Gleich, F., Scharre, S., Okun, J. G., Gropman, A. L., Nagamani, S. C. S., Druck, A-C., Epp, F., Hoffmann, G. F., Kölker, S., Zielonka, M., Urea Cycle Disorders Consortium (UCDC) & European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group[Corporate Author], 04.2024, In: GENET MED. 26, 4, p. 101039

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  3. Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis

    Maier, P., Jeyaweerasinkam, S., Eberhard, J., Soueidan, L., Hämmerling, S., Kohlmüller, D., Feyh, P., Gramer, G., Garbade, S. F., Hoffmann, G. F., Okun, J. G. & Sommerburg, O., 12.01.2024, In: INT J NEONAT SCREEN. 10, 1, 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  4. 2023

  5. Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples

    Maier, E. M., Mütze, U., Janzen, N., Steuerwald, U., Nennstiel, U., Odenwald, B., Schuhmann, E., Lotz-Havla, A. S., Weiss, K. J., Hammersen, J., Weigel, C., Thimm, E., Grünert, S. C., Hennermann, J. B., Freisinger, P., Krämer, J., Das, A. M., Illsinger, S., Gramer, G., Fang-Hoffmann, J., Garbade, S. F., Okun, J. G., Hoffmann, G. F., Kölker, S. & Röschinger, W., 11.2023, In: J INHERIT METAB DIS. 46, 6, p. 1043-1062 20 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  6. Vitamin-B12-Mangel im Neugeborenen- und Säuglingsalter: Ursachen, Früherkennung, Diagnostik und Vorstellung eines primär oralen Behandlungsschemas

    Gramer, G. & Hoffmann, G. F., 08.2023, In: MONATSSCHR KINDERH. 171, 8, p. 717-725

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  7. Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria

    Schnabel, E., Kölker, S., Gleich, F., Feyh, P., Hörster, F., Haas, D., Fang-Hoffmann, J., Morath, M., Gramer, G., Röschinger, W., Garbade, S. F., Hoffmann, G. F., Okun, J. G. & Mütze, U., 28.07.2023, In: NUTRIENTS. 15, 15, 3355.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  8. Neugeborenenscreening auf angeborene Störungen des Stoffwechsels, des Hormon-, des Blut-, des Immunsystems und des neuromuskulären Systems

    Murko, S., Gramer, G. & Santer, R., 04.2023, In: Kinder- und Jugendarzt. 54, 4, p. 234-246

    Research output: SCORING: Contribution to journal › Training articles › Education › peer-review

  9. German newborn screening for Cystic fibrosis: Parental perspectives and suggestions for improvements

    Gapp, S., Garbade, S. F., Feyh, P., Brockow, I., Nennstiel, U., Hoffmann, G. F., Sommerburg, O. & Gramer, G., 03.2023, In: PEDIATR PULM. 58, 3, p. 844-852 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  10. Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening

    Monostori, P., Godejohann, M., Janda, J., Galla, Z., Rácz, G., Klinke, G., Szatmári, I., Zsidegh, P., Kohlmüller, D., Kölker, S., Hoffmann, G. F., Gramer, G. & Okun, J. G., 01.2023, In: Clinical Biochemistry. 111, p. 72-80 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  11. Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening

    Mütze, U., Garbade, S. F., Gleich, F., Lindner, M., Freisinger, P., Hennermann, J. B., Thimm, E., Gramer, G., Posset, R., Krämer, J., Grünert, S. C., Hoffmann, G. F. & Kölker, S., 01.2023, In: J INHERIT METAB DIS. 46, 1, p. 15-27 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  12. Neonatal screening for isovaleric aciduria: Reducing the increasingly high false-positive rate in Germany

    Murko, S., Aseman, A. D., Reinhardt, F., Gramer, G., Okun, J. G., Mütze, U. & Santer, R., 01.2023, In: JIMD reports. 64, 1, p. 114-120 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  13. 2022

  14. Maternal Vitamin B12 Deficiency Detected by Newborn Screening-Evaluation of Causes and Characteristics

    Reischl-Hajiabadi, A. T., Garbade, S. F., Feyh, P., Weiss, K. H., Mütze, U., Kölker, S., Hoffmann, G. F. & Gramer, G., 13.09.2022, In: NUTRIENTS. 14, 18, 3767.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  15. Final results of the southwest German pilot study on cystic fibrosis newborn screening - Evaluation of an IRT/PAP protocol with IRT-dependent safety net

    Sommerburg, O., Stahl, M., Hämmerling, S., Gramer, G., Muckenthaler, M. U., Okun, J., Kohlmüller, D., Happich, M., Kulozik, A. E., Mall, M. A. & Hoffmann, G. F., 05.2022, In: J CYST FIBROS. 21, 3, p. 422-433 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  16. 2021

  17. Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

    van Wegberg, A. M. J., Trefz, F., Gizewska, M., Ahmed, S., Chabraoui, L., Zaki, M. S., Maillot, F., van Spronsen, F. J. & Study Group on Missed PKU and Missed to Follow-Up, 12.2021, In: J PEDIATR-US. 239, p. 231-234.e2

    Research output: SCORING: Contribution to journal › Short publication › Research › peer-review

  18. 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

    Muntau, A. C., Burlina, A., Eyskens, F., Freisinger, P., Leuzzi, V., Sivri, H. S., Gramer, G., Pazdírková, R., Cleary, M., Lotz-Havla, A. S., Lane, P., Alvarez, I. & Rutsch, F., 03.08.2021, In: ORPHANET J RARE DIS. 16, 1, p. 341

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  19. Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated

    Mütze, U., Walter, M., Keller, M., Gramer, G., Garbade, S. F., Gleich, F., Haas, D., Posset, R., Grünert, S. C., Hennermann, J. B., Thimm, E., Fang-Hoffmann, J., Syrbe, S., Okun, J. G., Hoffmann, G. F. & Kölker, S., 08.2021, In: J PEDIATR-US. 235, p. 42-48 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  20. Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening

    Gramer, G., Hoffmann, G. F. & Hennermann, J. B., 06.2021, In: MOL GENET METAB REP. 27, 100738.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  21. Implementing a tracking system for confirmatory diagnostic results after positive newborn screening for cystic fibrosis-implications for process quality and patient care

    Gramer, G., Brockow, I., Labitzke, C., Fang-Hoffmann, J., Beivers, A., Feyh, P., Hoffmann, G. F., Nennstiel, U. & Sommerburg, O., 04.2021, In: EUR J PEDIATR. 180, 4, p. 1145-1155 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  22. Phenylalanine Effects on Brain Function in Adult Phenylketonuria

    Pilotto, A., Zipser, C. M., Leks, E., Haas, D., Gramer, G., Freisinger, P., Schaeffer, E., Liepelt-Scarfone, I., Brockmann, K., Maetzler, W., Schulte, C., Deuschle, C., Hauser, A. K., Hoffmann, G. F., Scheffler, K., van Spronsen, F. J., Padovani, A., Trefz, F. & Berg, D., 19.01.2021, In: NEUROLOGY. 96, 3, p. e399-e411

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  23. 2020

  24. Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis

    Radelfahr, F., Riedhammer, K. M., Keidel, L. F., Gramer, G., Meitinger, T., Klopstock, T. & Wagner, M., 12.2020, In: NEUROL-GENET. 6, 6, p. e525

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  25. Citrin deficiency mimicking mitochondrial depletion syndrome

    Grünert, S. C., Schumann, A., Freisinger, P., Rosenbaum-Fabian, S., Schmidts, M., Mueller, A. J., Beck-Wödl, S., Haack, T. B., Schneider, H., Fuchs, H., Teufel, U., Gramer, G., Hannibal, L. & Spiekerkoetter, U., 11.11.2020, In: BMC PEDIATR. 20, 1, p. 518

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  26. Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening

    Mütze, U., Garbade, S. F., Gramer, G., Lindner, M., Freisinger, P., Grünert, S. C., Hennermann, J., Ensenauer, R., Thimm, E., Zirnbauer, J., Leichsenring, M., Gleich, F., Hörster, F., Grohmann-Held, K., Boy, N., Fang-Hoffmann, J., Burgard, P., Walter, M., Hoffmann, G. F. & Kölker, S., 11.2020, In: PEDIATRICS. 146, 5, p. e20200444

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  27. Vitamin B12 Deficiency in Newborns and their Mothers-Novel Approaches to Early Detection, Treatment and Prevention of a Global Health Issue

    Gramer, G. & Hoffmann, G. F., 10.2020, In: CURR MED SCI. 40, 5, p. 801-809 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  28. High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots

    Brennenstuhl, H., Kohlmüller, D., Gramer, G., Garbade, S. F., Syrbe, S., Feyh, P., Kölker, S., Okun, J. G., Hoffmann, G. F. & Opladen, T., 05.2020, In: J INHERIT METAB DIS. 43, 3, p. 602-610 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  29. Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!

    Grünert, S. C., Tucci, S., Schumann, A., Schwendt, M., Gramer, G., Hoffmann, G. F., Erbel, M., Stiller, B. & Spiekerkoetter, U., 10.04.2020, In: ORPHANET J RARE DIS. 15, 1, p. 87

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  30. Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation

    Cannet, C., Pilotto, A., Rocha, J. C., Schäfer, H., Spraul, M., Berg, D., Nawroth, P., Kasperk, C., Gramer, G., Haas, D., Piel, D., Kölker, S., Hoffmann, G., Freisinger, P. & Trefz, F., 27.02.2020, In: ORPHANET J RARE DIS. 15, 1, p. 61

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  31. Newborn Screening for Vitamin B12 Deficiency in Germany-Strategies, Results, and Public Health Implications

    Gramer, G., Fang-Hoffmann, J., Feyh, P., Klinke, G., Monostori, P., Mütze, U., Posset, R., Weiss, K. H., Hoffmann, G. F. & Okun, J. G., 01.2020, In: J PEDIATR-US. 216, p. 165-172.e4

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  32. 2019

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

    Pilotto, A., Blau, N., Leks, E., Schulte, C., Deuschl, C., Zipser, C., Piel, D., Freisinger, P., Gramer, G., Kölker, S., Haas, D., Burgard, P., Nawroth, P., Georg, H., Scheffler, K., Berg, D. & Trefz, F., 05.2019, In: J INHERIT METAB DIS. 42, 3, p. 398-406 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  34. Newborn screening for homocystinurias: Recent recommendations versus current practice

    Keller, R., Chrastina, P., Pavlíková, M., Gouveia, S., Ribes, A., Kölker, S., Blom, H. J., Baumgartner, M. R., Bártl, J., Dionisi-Vici, C., Gleich, F., Morris, A. A., Kožich, V., Huemer, M., Barić, I., Ben-Omran, T., Blasco-Alonso, J., Bueno Delgado, M. A., Carducci, C., Cassanello, M., Cerone, R., Couce, M. L., Crushell, E., Delgado Pecellin, C., Dulin, E., Espada, M., Ferino, G., Fingerhut, R., Garcia Jimenez, I., Gonzalez Gallego, I., González-Irazabal, Y., Gramer, G., Juan Fita, M. J., Karg, E., Klein, J., Konstantopoulou, V., la Marca, G., Leão Teles, E., Leuzzi, V., Lilliu, F., Lopez, R. M., Lund, A. M., Mayne, P., Meavilla, S., Moat, S. J., Okun, J. G., Pasquini, E., Pedron-Giner, C. C., Racz, G. Z., Ruiz Gomez, M. A., Vilarinho, L., Yahyaoui, R., Zerjav Tansek, M., Zetterström, R. H., Zeyda, M. & individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), 01.2019, In: J INHERIT METAB DIS. 42, 1, p. 128-139 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  35. 2018

  36. 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

    Gramer, G., Fang-Hoffmann, J., Feyh, P., Klinke, G., Monostori, P., Okun, J. G. & Hoffmann, G. F., 10.2018, In: WORLD J PEDIATR. 14, 5, p. 470-481 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  37. Can untreated PKU patients escape from intellectual disability? A systematic review

    van Vliet, D., van Wegberg, A. M. J., Ahring, K., Bik-Multanowski, M., Blau, N., Bulut, F. D., Casas, K., Didycz, B., Djordjevic, M., Federico, A., Feillet, F., Gizewska, M., Gramer, G., Hertecant, J. L., Hollak, C. E. M., Jørgensen, J. V., Karall, D., Landau, Y., Leuzzi, V., Mathisen, P., Moseley, K., Mungan, N. Ö., Nardecchia, F., Õunap, K., Powell, K. K., Ramachandran, R., Rutsch, F., Setoodeh, A., Stojiljkovic, M., Trefz, F. K., Usurelu, N., Wilson, C., van Karnebeek, C. D., Hanley, W. B. & van Spronsen, F. J., 29.08.2018, In: ORPHANET J RARE DIS. 13, 1, p. 149

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

    Chapman, K. A., Gramer, G., Viall, S. & Summar, M. L., 06.2018, In: MOL GENET METAB REP. 15, p. 106-109 4 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

    Gramer, G. & Gramer, E., 04.2018, In: INT OPHTHALMOL. 38, 2, p. 429-441 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  40. 2017

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

    Gramer, G., Gramer, E. & Weisschuh, N., 10.2017, In: J GLAUCOMA. 26, 10, p. 940-946 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  42. Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany

    Gramer, G., Abdoh, G., Ben-Omran, T., Shahbeck, N., Ali, R., Mahmoud, L., Fang-Hoffmann, J., Hoffmann, G. F., Al Rifai, H. & Okun, J. G., 04.2017, In: WORLD J PEDIATR. 13, 2, p. 136-143 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  43. Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial

    Muntau, A. C., Burlina, A., Eyskens, F., Freisinger, P., De Laet, C., Leuzzi, V., Rutsch, F., Sivri, H. S., Vijay, S., Bal, M. O., Gramer, G., Pazdírková, R., Cleary, M., Lotz-Havla, A. S., Munafo, A., Mould, D. R., Moreau-Stucker, F. & Rogoff, D., 09.03.2017, In: ORPHANET J RARE DIS. 12, 1, p. 47

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  44. Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy

    Okun, J. G., Gan-Schreier, H., Ben-Omran, T., Schmidt, K. V., Fang-Hoffmann, J., Gramer, G., Abdoh, G., Shahbeck, N., Al Rifai, H., Al Khal, A. L., Haege, G., Chiang, C-C., Kasper, D. C., Wilcken, B., Burgard, P. & Hoffmann, G. F., 2017, In: JIMD reports. 32, p. 87-94 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  45. 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

    Monostori, P., Klinke, G., Richter, S., Baráth, Á., Fingerhut, R., Baumgartner, M. R., Kölker, S., Hoffmann, G. F., Gramer, G. & Okun, J. G., 2017, In: PLOS ONE. 12, 9, p. e0184897

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  46. 2016

  47. Genetic cause and prevalence of hydroxyprolinemia

    Staufner, C., Haack, T. B., Feyh, P., Gramer, G., Raga, D. E., Terrile, C., Sauer, S., Okun, J. G., Fang-Hoffmann, J., Mayatepek, E., Prokisch, H., Hoffmann, G. F. & Kölker, S., 09.2016, In: J INHERIT METAB DIS. 39, 5, p. 625-632 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

    Gramer, G., Haege, G., Langhans, C-D., Schuhmann, V., Burgard, P. & Hoffmann, G. F., 06.2016, In: PROSTAG LEUKOTR ESS. 109, p. 52-7 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

    Kunz, J. B., Awad, S., Happich, M., Muckenthaler, L., Lindner, M., Gramer, G., Okun, J. G., Hoffmann, G. F., Bruckner, T., Muckenthaler, M. U. & Kulozik, A. E., 02.2016, In: ANN HEMATOL. 95, 3, p. 397-402 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  50. 2015

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

    Gramer, G., Weber, B. H. F. & Gramer, E., 12.2015, In: INVEST OPHTH VIS SCI. 56, 13, p. 7999-8007 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

    Gramer, G., Haege, G., Fang-Hoffmann, J., Hoffmann, G. F., Bartram, C. R., Hinderhofer, K., Burgard, P. & Lindner, M., 2015, In: JIMD reports. 23, p. 101-12 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

    Stendel, C., Gallenmüller, C., Peters, K., Bürger, F., Gramer, G., Biskup, S. & Klopstock, T., 2015, In: J NEUROL. 262, 4, p. 1072-3 2 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  54. 2014

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

    Gramer, G., Haege, G., Glahn, E. M., Hoffmann, G. F., Lindner, M. & Burgard, P., 03.2014, In: J INHERIT METAB DIS. 37, 2, p. 189-95 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

    Gramer, G., Weber, B. H. F. & Gramer, E., 13.01.2014, In: INVEST OPHTH VIS SCI. 55, 1, p. 259-64 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  57. 2013

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

    Gramer, G., Förl, B., Springer, C., Weimer, P., Haege, G., Mackensen, F., Müller, E., Völcker, H. E., Hoffmann, G. F., Lindner, M., Krastel, H. & Burgard, P., 01.2013, In: MOL GENET METAB. 108, 1, p. 1-7 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  59. 2012

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

    Gramer, G., Wolf, N. I., Vater, D., Bast, T., Santer, R., Kamsteeg, E-J., Wevers, R. A. & Ebinger, F., 01.06.2012, In: NEUROPEDIATRICS. 43, 3, p. 168-171 4 p., 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  61. Pseudoexfoliationssyndrom: Fehlen der zentralen Zone des Pseudoexfoliations-Materials bei Patienten mit Pseudophakie - eine klinische Studie

    Reiter, C., Gramer, E. & Gramer, G., 03.2012, In: KLIN MONATSBL AUGENH. 229, 3, p. 241-5 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

    Gramer, E., Reiter, C. & Gramer, G., 2012, In: EUR J OPHTHALMOL. 22, 1, p. 104-10 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  63. 2011

  64. Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany

    Lindner, M., Gramer, G., Haege, G., Fang-Hoffmann, J., Schwab, K. O., Tacke, U., Trefz, F. K., Mengel, E., Wendel, U., Leichsenring, M., Burgard, P. & Hoffmann, G. F., 20.06.2011, In: ORPHANET J RARE DIS. 6, p. 44

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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