Zeitschrift
Orphanet Journal of Rare Diseases
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ResearchA charitable access program for patients with lysosomal storage disorders in underserved communities worldwide
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ResearchClinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up
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ResearchPatient’s thoughts and expectations about centres of expertise for PKU
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ReviewBone fragility in patients affected by congenital diseases non skeletal in origin
