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Mutation Analysis of the GCDH Gene in Italian and Portuguese Patients with Glutaric Aciduria Type I

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Molecular Genetics of Glycogen-Storage Disease Type 1a in Chinese Patients of Taiwan

By Wong L-J.C.   Hwu W-L.   Dai P.   Chen T-J.  

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Molecular Genetics of Type 1 Glycogen Storage Disease

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Prediction of Sanfilippo Phenotype Severity from Immunoquantification of Heparan-N-sulfamidase in Cultured Fibroblasts from Mucopolysaccharidosis Type IIIA Patients

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