Etiqueta: Orphanet Journal of Rare Diseases
-
From amino acids to animal models: MAP2K2 mutations and their role in pathogenesis of CFC4 Syndrome
Background Main body Conclusions Graphical A…
-
The undiagnosed rare disease clinic program of Indiana University School of Medicine: lessons learned from the first 100 cases enrolled (Phase-I pilot)
Background Methods Results Conclusion …
-
Interventions targeting challenges experienced by individuals with Pitt Hopkins syndrome: a scoping review
Background Results Conclusions
-
Unveiling the depth of the knowledge gap in the Universe of Rare Diseases: the PLUTO mission
Background Methods Results Conclusions …
-
A qualitative study assessing content validity of Neuro-QoL fatigue and PROMIS mental fatigue in m.3243A>G primary mitochondrial disease
Background Methods Results Conclusions …
-
Psychological symptoms in individuals with Spinal Muscular Atrophy (SMA) and their caregivers – results from a nation-wide study in Germany
Background Results Conclusions Trial registr…