Concepedia
Statistics
Publications
15
Citations
392
H-Index
13
Active since
2002
Affiliations
Meyer Children's Hospital(Current)
University of Florence
Azienda Ospedaliera San Gerardo
Università Cattolica del Sacro Cuore
Agostino Gemelli University Polyclinic
Catia Cavicchi is an author at Meyer Children's Hospital specializing in molecular genetics, genetic disorders, and life sciences.
Publications per year
2002–2022
Hypocitrullinemia in expanded newborn screening by LC–MS/MS is not a reliable marker for ornithine transcarbamylase deficiency
Catia Cavicchi, Sabrina Malvagia, Giancarlo la Marca et al. · Journal of Pharmaceutical and Biomedical Analysis · 2009 · 62 citations
Medicine, Child Health, Pediatrics +17
Functional studies of new GLA gene mutations leading to conformational fabry disease
C. Filoni, Anna Caciotti, Laura Carraresi et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2009 · 53 citations · Full text
Life Sciences, Genetics, Molecular Genetics +6
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment
Catia Cavicchi, Maria Alice Donati, Rossella Parini et al. · Orphanet Journal of Rare Diseases · 2014 · 46 citations · Full text
Life Sciences, Genetics, Molecular Genetics +12
Fabry disease: polymorphic haplotypes and a novel missense mutation in the <i>GLA</i> gene
Lorenzo Ferri, Carmen Guido, Giancarlo la Marca et al. · Clinical Genetics · 2011 · 33 citations
Life Sciences, Genetics, Molecular Genetics +17
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations
Anna Caciotti, Rodolfo Tonin, Miriam Rigoldi et al. · Human Mutation · 2014 · 31 citations
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