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JIMD reports

Bibliographical data

ISSNs2192-8304

Publications

Health-related quality of life and patient-reported outcome measurements in patients with cystinosis
Witt, S., Kristensen, K., Hohenfellner, K. & Quitmann, J. H., 03.2023, In: JIMD reports. 64, 2, p. 199-211 13 p.

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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.

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Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa
Berger, K. I., Burton, B. K., Lewis, G. D., Tarnopolsky, M., Harmatz, P. R., Mitchell, J. J., Muschol, N., Jones, S. A., Sutton, V. R., Pastores, G. M., Lau, H., Sparkes, R. & Shaywitz, A. J., 01.2018, In: JIMD reports. 42, p. 9-17 9 p.

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Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms
du Moulin, M., Thies, B., Blohm, M., Oh, J., Kemper, M. J., Santer, R. & Mühlhausen, C., 12.07.2017, In: JIMD reports.

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Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism
Zeltner, N. A., Baumgartner, M. R., Bondarenko, A., Ensenauer, R., Karall, D., Kölker, S., Mühlhausen, C., Scholl-Bürgi, S., Thimm, E., Quitmann, J., Burgard, P., Landolt, M. A. & Huemer, M., 01.03.2017, In: JIMD reports.

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Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents
Zeltner, N. A., Landolt, M. A., Baumgartner, M. R., Lageder, S., Quitmann, J., Sommer, R., Karall, D., Mühlhausen, C., Schlune, A., Scholl-Bürgi, S. & Huemer, M., 02.2017, In: JIMD reports. 31, p. 1-9

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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.

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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.

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Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany
Hahn, A., Praetorius, S., Karabul, N., Dießel, J., Schmidt, D., Motz, R., Haase, C., Baethmann, M., Hennermann, J. B., Smitka, M., Santer, R., Muschol, N., Meyer, A., Marquardt, T., Huemer, M., Thiels, C., Rohrbach, M., Seyfullah, G. & Mengel, E., 2015, In: JIMD reports. 20, p. 65-75 11 p.

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The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin
Trefz, F. K., Muntau, A. C., Lagler, F. B., Moreau, F., Alm, J., Burlina, A., Rutsch, F., Bélanger-Quintana, A., Feillet, F. & KAMPER investigators, 2015, In: JIMD reports. 23, p. 35-43

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