Categoría: Orphanet Journal of Rare Diseases
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Clinical and genetic landscapes of mucopolysaccharidosis type III in 20 Chinese patients
Background Methods Results Conclusion …
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Management of patients with rare diseases in the Middle East: challenges & opportunities – insights from the Rare Advocacy Council
Background Methods Results Conclusions
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Genotypic and clinical characteristics of long-term surviving adult patients with urea cycle disorders in Japan
Background Methods Results Conclusion …
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Management of patients with rare diseases in the Middle East: challenges & opportunities – insights from the Rare Advocacy Council
Background Methods Results Conclusions
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Genotypic and clinical characteristics of long-term surviving adult patients with urea cycle disorders in Japan
Background Methods Results Conclusion …
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Clinical and genetic landscapes of mucopolysaccharidosis type III in 20 Chinese patients
Background Methods Results Conclusion …
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Disease severity and lyso-Gb3 are associated with early echocardiographic markers of cardiac involvement in Fabry disease: a single-center observational study
Background Methods Results Conclusions …