Concepedia
Statistics
Publications
7
Citations
445
H-Index
Active since
1994
Affiliations
University of Cagliari(Current)
Istituto Giannina Gaslini
Meyer Children's Hospital
University of Padua
Bambino Gesù Children's Hospital
Franco Lilliu is an author at University of Cagliari specializing in life sciences, genetics, and medical genetics.
Publications per year
1994–2019
Molecular characterization of Wilson disease in the Sardinian population?Evidence of a founder effect
Georgios Loudianos, Valeria Dessì, Mario Lovicu et al. · Human Mutation · 1999 · 169 citations
Life Sciences, Genetics, Molecular Genetics +12
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy
Renzo Manara, Elena Priante, Marco Grimaldi et al. · Journal of Inherited Metabolic Disease · 2011 · 88 citations
Medicine, Neurology, Radiology +11
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation
Rita Barone, Marco Carrozzi, Rossella Parini et al. · Journal of Neurology · 2014 · 57 citations
Life Sciences, Genetics, Neurology +8
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT‐II deficiency
Angelica Anichini, Denise Cassandrini, Chiara Fiorillo et al. · Clinical Genetics · 2011 · 49 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
Newborn screening for homocystinurias: Recent recommendations versus current practice
Rebecca Keller, Petr Chrastina, Markéta Pavlı́ková et al. · Journal of Inherited Metabolic Disease · 2019 · 46 citations · Full text
Medicine, Child Health, Pediatrics +12
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