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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

Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening

Trollmann, R., Johannsen, J., Vill, K., Köhler, C., Hahn, A., Illsinger, S. & Pechmann, A. & 2 others, Hagen, M. V. D. & Müller-Felber, W., Dec 2024, In: Orphanet journal of rare diseases. 19, 1, 353.

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

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 others, Erasmus, 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 (2024), 1, 17 p., 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 others, von 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 others, Berner, 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

View all research output (17)