Orphanet Journal of Rare Diseases
Journal Abbreviation: ORPHANET J RARE DIS
ISSN: 1750-1172
Publisher: BioMed Central
Publications (28)
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
Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia (2021)
Hennig V, Schuh W, Neubert A, Mielenz D, Jäck HM, Schneider H
Journal article
Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans (2021)
Schwarm C, Gola D, Holtsche MM, Dieterich A, Bhandari A, Freitag M, Nürnberg P, et al.
Journal article
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (2021)
Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, et al.
Journal article
No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia (2021)
Körber L, Schneider H, Fleischer N, Maier-Wohlfart S
Journal article
Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy (2021)
Rohde C, Thiele AG, Baerwald C, Ascherl RG, Lier D, Och U, Heller C, et al.
Journal article
Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study (2021)
Grau J, Zollner JP, Schubert-Bast S, Kurlemann G, Hertzberg C, Wiemer-Kruel A, Bast T, et al.
Journal article
Early start of growth hormone is associated with positive effects on auxology and metabolism in Prader-Willi-syndrome (2020)
Magill L, Laemmer C, Wölfle J, Fimmers R, Gohlke B
Journal article
Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study (2020)
Wohlfart S, Meiller R, Hammersen J, Park J, Menzel-Severing J, Melichar VO, Huttner K, et al.
Journal article
Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - A randomized, double-blind, placebo-controlled trial (2019)
Dittrich S, Graf E, Trollmann R, Neudorf U, Schara U, Heilmann A, Von Der Hagen M, et al.
Journal article