Orphanet Journal of Rare Diseases
Journal Abbreviation: ORPHANET J RARE DIS
ISSN: 1750-1172
Publisher: BioMed Central
Publications (33)
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
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy (2019)
Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, et al.
Journal article
TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study (2018)
De Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, et al.
Journal article
Whipple's disease mimicking rheumatoid arthritis can cause misdiagnosis and treatment failure (2017)
Glaser C, Rieg S, Wiech T, Scholz C, Endres D, Stich O, Hasselblatt P, et al.
Journal article
Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration (2016)
Busch A, Hoffjan S, Bergmann F, Hartung B, Jung H, Hanel D, Tzschach A, et al.
Journal article
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma (2016)
Mauri L, Uebe S, Sticht H, Vossmerbaeumer U, Weisschuh N, Manfredini E, Maselli E, et al.
Journal article