Zeitschrift
Orphanet Journal of Rare Diseases
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ResearchGenotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b)
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ReviewKaposiform hemangioendothelioma: current knowledge and future perspectives
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ResearchNewborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns
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Position statementNeurofibromatosis 1 French national guidelines based on an extensive literature review since 1966
