Publications by authors named "Franco Lilliu"

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Wilson's disease in Sardinian population: The experience of a pediatric referral center.
Georgios Loudianos, Stefania Satta, Maria B Lepori, Franco Anni, Roberta Balloi, Franco Lilliu

J Pediatr Gastroenterol Nutr· October 2024

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Newborn screening for homocystinurias: Recent recommendations versus current practice.
Rebecca Keller, Petr Chrastina, Markéta Pavlíková, Sofía Gouveia, Antonia Ribes, Franco Lilliu

J Inherit Metab Dis· January 2019

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Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.
Renzo Manara, Elena Priante, Marco Grimaldi, Lucia Santoro, Luca Astarita, Franco Lilliu

J Inherit Metab Dis· June 2011

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Treatment of organic acidurias and urea cycle disorders.
Franco Lilliu

J Matern Fetal Neonatal Med· October 2010

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Increase in urinary purines and pyrimidines in patients with methylmalonic aciduria combined with homocystinuria.
Simona Porcu, Marcella Corda, Franco Lilliu, Liliana Contini, Benedetta Era

Clin Chim Acta· June 2010

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Molecular analysis of glycogen storage disease type Ib in Sardinian population: evidence for a founder effect.
Antonietta Zappu, Franco Lilliu, Rosa Anna Podda, Georgios Loudianos

Genet Test Mol Biomarkers· June 2010

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Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure.
Satomi Sakurai, Toshiyuki Fukao, Antti M Haapalainen, Gaixiu Zhang, Keitaro Yamada, Franco Lilliu

Mol Genet Metab· April 2007

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