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Research Portal of the TU Dresden

Orphanet Journal of Rare Diseases

ISSNs: 1750-1172

BioMed Central, London

Scopus rating (2023): CiteScore 6.3 SJR 1.182 SNIP 1.464

Indexed in DOAJ

Journal

Titles	Orphanet Journal of Rare Diseases Orphanet journal of rare diseases
Additional searchable titles	Orphanet journal of rare diseases, Orphanet J Rare Dis
ISSNs	1750-1172
Publisher	BioMed Central, London
ZDB-ID	2225857-7

Keywords

ASJC Scopus subject areas

Genetics (clinical)
Pharmacology (medical)

Library keywords

610 Medicine and health

Related content

Research output

How to customize common data models for rare diseases: an OMOP-based implementation and lessons learned

Ahmadi, N., Zoch, M., Guengoeze, O., Facchinello, C., Mondorf, A., Stratmann, K., Musleh, K., & 16 othersErasmus, H-P., Tchertov, J., Gebler, R., Schaaf, J., Frischen, L. S., Nasirian, A., Dai, J., Henke, E., Tremblay, D., Srisuwananukorn, A., Bornhäuser, M., Röllig, C., Eckardt, J-N., Middeke, J. M., Wolfien, M. & Sedlmayr, M., 14 Aug 2024, In: Orphanet journal of rare diseases. 19, 1, 298.

Research output: Contribution to journal › Research article › Contributed › peer-review

Detect Acute Porphyrias in Emergency Departments (DePorED) – a pilot study

Diehl-Wiesenecker, E., Blaschke, S., Wohmann, N., Kubisch, I., Stauch, T., Mainert, M., Helm, F., & 5 othersvon Wegerer, S., Pittrow, D., Frank, J., Stölzel, U. & Somasundaram, R., Dec 2023, In: Orphanet journal of rare diseases. 18, 1, 146.

Research output: Contribution to journal › Research article › Contributed › peer-review

Investigating significant health trends in growth hormone treatments registry: rationale, aims and design of a nationwide prospective registry (study protocol)

for the INSIGHTS-GHT Study Group, Dec 2023, In: Orphanet journal of rare diseases. 18, 1, 112.

Research output: Contribution to journal › Research article › Contributed › peer-review

Transition for adolescents with a rare disease: results of a nationwide German project

Grasemann, C., Höppner, J., Burgard, P., Schündeln, M. M., Matar, N., Müller, G., Krude, H., & 22 othersBerner, R., Lee-Kirsch, M. A., Hauck, F., Wainwright, K., Baumgarten, S., Atinga, J., Bauer, J. J., Manka, E., Körholz, J., Kiewert, C., Heinen, A., Kretschmer, T., Kurth, T., Mittnacht, J., Schramm, C., Klein, C., Graessner, H., Hiort, O., Muntau, A. C., Grüters, A., Hoffmann, G. F. & Choukair, D., 25 Apr 2023, In: Orphanet journal of rare diseases. 18, 1, p. 1-9 9 p., 93.

Research output: Contribution to journal › Research article › Contributed › peer-review

Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany

Risdiplam Compassionate Use Program Group, Dec 2022, In: Orphanet journal of rare diseases. 17, 1, 276.

Research output: Contribution to journal › Research article › Contributed › peer-review

View all research output (16)