Orphanet Journal of Rare Diseases
Journal Abbreviation: ORPHANET J RARE DIS
ISSN: 1750-1172
Publisher: BioMed Central
Publications (33)
Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey (2025)
Zucchi D, Marinello D, Tani C, Fulvio G, Aguilera S, Benachi A, Biller R, et al.
Journal article
Attitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus (2025)
Schneider H, Schneider M, Lia M, Grange DK, Hadj-Rabia S, Clarke A, Fete M, et al.
Journal article
Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types (2025)
Disse S, Ramantani G, Küpper H, Bock A, Korenke GC, Weidner B, Preisel M, et al.
Journal article
First 100 patients receiving long-acting growth hormone therapy: real-world evaluation from INSIGHTS-GHT registry (2025)
Wölfle J, Kreitschmann-Andermahr I, Strasburger CJ, Pittrow DB, Pausch C, Schnabel D
Journal article
Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening (2024)
Trollmann R, Johannsen J, Vill K, Köhler C, Hahn A, Illsinger S, Pechmann A, et al.
Journal article
Unveiling the untreated: development of a database algorithm to identify potential Fabry disease patients in Germany (2024)
Hilz MJ, Lyn N, Marczykowski F, Werner B, Pignot M, Ponce E, Bender J, et al.
Journal article
A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex (2023)
Mammadova D, Vecko J, Hofmann M, Schüssler S, Deiters L, Canda A, Wieland A, et al.
Journal article
Correlation of retinal vascular characteristics with laboratory and ocular findings in Fabry disease: exploring ocular diagnostic biomarkers (2023)
Lindziute M, Kaufeld J, Hufendiek K, Volkmann I, Brockmann D, Hosari S, Hohberger B, et al.
Journal article
Automated assessment of foot elevation in adults with hereditary spastic paraplegia using inertial measurements and machine learning (2023)
Ollenschläger M, Höfner P, Ullrich M, Kluge F, Greinwalder T, Loris E, Regensburger M, et al.
Journal article
Investigating significant health trends in growth hormone treatments registry: rationale, aims and design of a nationwide prospective registry (study protocol) (2023)
Schnabel D, Kreitschmann-Andermahr IJ, Strasburger C, Pittrow D, Pausch C, Wölfle J, Nsights-Ght Study Grp
Journal article