Categoría: Orphanet Journal of Rare Diseases
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Long-term treatment with sirolimus for pediatric vascular anomalies
Background Methods Results Conclusions …
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Repetitive transcranial magnetic stimulation normalizes cerebrocerebellar loop functional connectivity in spinocerebellar ataxia type 3
Background Methods Results Discussion …
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Expiratory phase lung mechanics in late-onset Pompe disease: a multicenter study using oscillometry to identify specific breathing abnormalities
Introduction Methods Results Conclusion
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A case of mucopolysaccharidosis I with severely increased albuminuria and Graves’ disease, and functional analysis of previously uncharacterized variant
Background Case description Methods Results …
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Assessment of cardiometabolic risk using single point insulin sensitivity estimator (SPISE) in pediatric Bardet–Biedl Syndrome: a pilot study
Background Methods Results Conclusions