Categoría: Orphanet Journal of Rare Diseases
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Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families
Background Results Conclusions
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A case of mixed histiocytosis (Erdheim-Chester disease and Langerhans cell histiocytosis) with STEAP3-associated anemia and type 4 hemochromatosis
Background Methods Results Conclusion …
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Patient-reported clinical characteristics and healthcare utilization in Spinal Muscular Atrophy (SMA): a cross-sectional study from Iran
Background Methods Results Conclusion …
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Quality of life in children and adults with epidermolysis bullosa: the QoL-REB explorative study
Background Methods Results Conclusions
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Original investigation: evolution of long-term cardiac tumours in patients with tuberous sclerosis
Background Objectives Methods Results Concl…
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Tailoring acceptance and commitment therapy for parents of children with undiagnosed conditions: a qualitative pre-implementation study
Background Methods Results Conclusions …