Orphanet Journal of Rare Diseases
Journal Abbreviation: ORPHANET J RARE DIS
ISSN: 1750-1172
Publisher: BioMed Central
Publications (28)
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
Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany (2023)
Maltseva M, Schubert-Bast S, Zöllner JP, Bast T, Mayer T, von Spiczak S, Ruf S, et al.
Journal article
Identifying adult hypophosphatasia in the rheumatology unit (2022)
Feurstein J, Behanova M, Haschka J, Roetzer K, Uyanik G, Hadzimuratovic B, Witsch-Baumgartner M, et al.
Journal article
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study (2022)
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, et al.
Journal article
Correction to: Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany (Orphanet Journal of Rare Diseases, (2022), 17, 1, (276), 10.1186/s13023-022-02420-8) (2022)
Hahn A, Günther R, Ludolph A, Schwartz O, Trollmann R, Weydt P, Weiler M, et al.
Journal article, Erratum
Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia (2022)
Utz K, Kohl Z, Marterstock D, Dörfler A, Winkler J, Schmidt M, Regensburger M
Journal article