Orphanet Journal of Rare Diseases

ISSNs: 1750-1172

BioMed Central, London

Scopus rating (2022): CiteScore 5.8 SJR 1.12 SNIP 1.702

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

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

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

SMArtCARE study group, Günther, R., Smitka, M. & Freigang, M., Dec 2022, In: Orphanet journal of rare diseases. 17, 1, 384.

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

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

Risdiplam Compassionate Use Program Group, 25 Oct 2022, Orphanet journal of rare diseases, 17, 1, p. 387.

Research output: Contribution to specialist publication › Corrections (errata and retractions) › peer-review

View all research output (14)

Research Portal of the TU Dresden

Orphanet Journal of Rare Diseases

Keywords

ASJC Scopus subject areas

Library keywords

Related content

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

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

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

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

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