Research ExplorerJournalsORPHANET J RARE DIS

ORPHANET J RARE DIS - Orphanet Journal of Rare Diseases

Bibliographical data

ISSNs1750-1172
Electronic ISSN 1750-1172

Publications

Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: a cross-sectional study
Mund, M., Uhlenbusch, N., Rillig, F., Weiler-Normann, C., Herget, T., Kubisch, C., Löwe, B. & Schramm, C., 14.04.2023, In: ORPHANET J RARE DIS. 18, 1, p. 82 82.

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

The psychosocial situation of families caring for children with rare diseases during the COVID‑19 pandemic: results of a cross‑sectional online survey
Rihm, L., Dreier, M., Rezvani, F., Wiegand-Grefe, S. & Dirmaier, J., 26.12.2022, In: ORPHANET J RARE DIS. 17, 1, p. 449 449.

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

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study
Pechmann, A., Behrens, M., Dörnbrack, K., Tassoni, A., Wenzel, F., Stein, S., Vogt, S., Zöller, D., Bernert, G., Hagenacker, T., Schara-Schmidt, U., Walter, M. C., Bertsche, A., Vill, K., Baumann, M., Baumgartner, M., Cordts, I., Eisenkölbl, A., Flotats-Bastardas, M., Friese, J., Günther, R., Hahn, A., Horber, V., Husain, R. A., Illsinger, S., Jahnel, J., Johannsen, J., Köhler, C., Kölbel, H., Müller, M., von Moers, A., Schwerin-Nagel, A., Reihle, C., Schlachter, K., Schreiber, G., Schwartz, O., Smitka, M., Steiner, E., Trollmann, R., Weiler, M., Weiß, C., Wiegand, G., Wilichowski, E., Ziegler, A., Lochmüller, H., Kirschner, J. & SMArtCARE study group, 23.10.2022, In: ORPHANET J RARE DIS. 17, 1, 384.

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

Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI)
Theng, E. H., Brewer, C. C., Oheim, R., Zalewski, C. K., King, K. A., Delsmann, M. M., Rolvien, T., Gafni, R. I., Braddock, D. T., Jeffrey Kim, H. & Ferreira, C. R., 19.07.2022, In: ORPHANET J RARE DIS. 17, 1, 273.

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

Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needs
Brandt, M., Johannsen, L., Inhestern, L. & Bergelt, C., 19.07.2022, In: ORPHANET J RARE DIS. 17, 1, 274.

Research output: SCORING: Contribution to journal › SCORING: Review article › Research

Factors of family impact in a Swedish-German cohort of children born with esophageal atresia
Dellenmark-Blom, M., Abrahamsson, K., Dingemann, J., Witt, S., Dingemann, C., Jönsson, L., Gatzinsky, V., Bullinger, M., Ure, B. M., Chaplin, J. E. & Quitmann, J. H., 21.05.2022, In: ORPHANET J RARE DIS. 17, 1, 207.

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

Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort study
Hebestreit, H., Zeidler, C., Schippers, C., de Zwaan, M., Deckert, J., Heuschmann, P., Krauth, C., Bullinger, M., Berger, A., Berneburg, M., Brandstetter, L., Deibele, A., Dieris-Hirche, J., Graessner, H., Gündel, H., Herpertz, S., Heuft, G., Lapstich, A-M., Lücke, T., Maisch, T., Mundlos, C., Petermann-Meyer, A., Müller, S., Ott, S., Pfister, L., Quitmann, J., Romanos, M., Rutsch, F., Schaubert, K., Schubert, K., Schulz, J. B., Schweiger, S., Tüscher, O., Ungethüm, K., Wagner, T. O. F., Haas, K. & ZSE-DUO working group, 14.02.2022, In: ORPHANET J RARE DIS. 17, 1, 47.

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

Quality of life and mental health of children with rare congenital surgical diseases and their parents during the COVID-19 pandemic
Fuerboeter, M., Boettcher, J., Barkmann, C., Zapf, H., Nazarian, R., Wiegand-Grefe, S., Reinshagen, K. & Boettcher, M., 27.11.2021, In: ORPHANET J RARE DIS. 16, 1, p. 498

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

Rare pediatric diseases and pathways to psychosocial care: a qualitative interview study with professional experts working with affected families in Germany
Witt, S., Kristensen, K., Wiegand-Grefe, S., Boettcher, J., Bloemeke, J., Wingartz, C., Bullinger, M., Quitmann, J. & CARE-FAM-NET Studiengruppe, 27.11.2021, In: ORPHANET J RARE DIS. 16, 1, 497.

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

Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease
Atiskova, Y., Wildner, J., Spitzer, M. S., Aries, C., Muschol, N. & Dulz, S., 20.11.2021, In: ORPHANET J RARE DIS. 16, 1, 485.

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

View all (56)