Orphanet Journal of Rare Diseases

Journal Abbreviation: ORPHANET J RARE DIS
ISSN: 1750-1172
Publisher: BioMed Central

Publications (27)

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Unpublished / Preprint

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Abstract

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 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 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 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 Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany (2022) Hahn A, Guenther R, Ludolph A, Schwartz O, Trollmann R, Weydt P, Weiler M, et al. Journal article
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