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Latest Results
Recovery of cardiac function in Desmin cardiomyopathy with medical therapy
Abr 30, 2026
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por
Latest Results
en
Articulos
,
Orphanet Journal of Rare Diseases
Background Results Conclusions
Living-donor liver transplantation in children with inherited metabolic and genetic cholestatic liver diseases: a single-center retrospective cohort study
Abr 30, 2026
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por
Latest Results
en
Articulos
,
Orphanet Journal of Rare Diseases
Background Results Conclusions
Perinatal outcomes in 35 children with cartilage hair hypoplasia
Abr 30, 2026
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por
Latest Results
en
Articulos
,
Orphanet Journal of Rare Diseases
Clinical spectrum, diagnosis, cognitive outcomes and therapeutic strategies in pediatric Rasmussen syndrome: a 10-year cohort from a tertiary pediatric center
Abr 29, 2026
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por
Latest Results
en
Articulos
,
Orphanet Journal of Rare Diseases
Background Results Conclusions
Fostering continuous quality improvement in a European rare disease network: Where are we now?
Abr 29, 2026
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por
Latest Results
en
Articulos
,
Orphanet Journal of Rare Diseases
Prevalence of depressive and anxiety symptoms among patients consulting a rare disease outpatient clinic for rare and undiagnosed diseases in China
Abr 29, 2026
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por
Latest Results
en
Articulos
,
Orphanet Journal of Rare Diseases
Family studies in Gaucher Disease: a key resource for early diagnosis and personalized treatment strategies
Abr 28, 2026
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por
Latest Results
en
Articulos
,
Orphanet Journal of Rare Diseases
Rigorous genetic diagnosis review in natural history studies
Abr 28, 2026
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por
Latest Results
en
Articulos
,
Orphanet Journal of Rare Diseases
Background Results Conclusions
Dystonia as an early and prominent feature in a patient with CYP2U1 gene mutation: expanding the phenotype of SPG56-a case report
Abr 27, 2026
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por
Latest Results
en
Articulos
,
Orphanet Journal of Rare Diseases
The disease burden and health-related quality of life in Chinese children with genetic cholestatic liver diseases: a cross-sectional study of progressive familial intrahepatic cholestasis and Alagille syndrome
Abr 27, 2026
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por
Latest Results
en
Articulos
,
Orphanet Journal of Rare Diseases
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