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A newCOL3A1mutation in Ehlers-Danlos syndrome type IV
Download from onlinelibrary.wiley.comBrittle cornea syndrome: recognition, molecular diagnosis and management
Download from dx.doi.orgRevised recommendations for the management of Gaucher disease in children
Download from www.researchgate.netCRIM-negative infantile Pompe disease: 42-Month treatment outcome
Download from onlinelibrary.wiley.comPostprandial changes of amino acid and acylcarnitine concentrations in dried blood samples
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