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Journal of Inherited Metabolic Disease, Vol. 30, Iss. 2, 2007-04 ,pp. : 239-247

Springer Publishing Company

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Heterozygous familial hypercholesterolaemia in childhood: Cardiovascular risk prevention

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PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”

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European Journal of Pediatrics, Vol. 165, Iss. 11, 2006-11 ,pp. : 803-805

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GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations

By Garavaglia B.   Invernizzi F.   Carbone M.   Viscardi V.   Saracino F.   Ghezzi D.   Zeviani M.   Zorzi G.   Nardocci N.  

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Renal tubular dysfunction in patients with molecular defects of the insulin receptor gene

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