C
Catia Cavicchi
Researcher at Boston Children's Hospital
Publications - 20
Citations - 390
Catia Cavicchi is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Newborn screening & Gene mutation. The author has an hindex of 10, co-authored 18 publications receiving 316 citations.
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Journal ArticleDOI
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers
Amelia Morrone,Catia Cavicchi,T Bardelli,Daniela Antuzzi,Rossella Parini,M. Di Rocco,Sandro Feriozzi,Orazio Gabrielli,Rita Barone,Giuseppe Pistone,Claudio Spisni,Roberta Ricci,Enrico Zammarchi +12 more
TL;DR: The classical form is mainly characterised, in affected hemizygous males, by angiokeratoma, acroparaesthesias, hypohidrosis, pains, fever crises, and involvement of the kidneys, brain, and heart, while the cardiac variant is characterised by symptoms restricted to cardiac abnormalities.
Journal ArticleDOI
Functional studies of new gla gene mutations leading to conformational fabry disease
C. Filoni,Anna Caciotti,Laura Carraresi,Catia Cavicchi,Rossella Parini,Daniela Antuzzi,Anna Zampetti,Sandro Feriozzi,P. Poisetti,Scott C. Garman,Renzo Guerrini,Enrico Zammarchi,M.A. Donati,Amelia Morrone +13 more
TL;DR: The hypothesis that an active site-specific chemical chaperone, which could be administered orally, might be effective in treating GAL-A conformational defects is endorsed, paving the way for conformational FD.
Journal ArticleDOI
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients
Anna Caciotti,M. Di Rocco,Mirella Filocamo,Serena Grossi,F. Traverso,Alessandra d'Azzo,Catia Cavicchi,A. Messeri,Renzo Guerrini,Enrico Zammarchi,Maria Alice Donati,Amelia Morrone +11 more
TL;DR: The genetic characterization of two patients with Type II sialidosis exhibiting the congenital (P1) and infantile forms (P2) showed one known NEU1 missense mutation, and the new c.807 + 1G > A splicing defect (detected in P1), a genetic lesion that is extremely rare in this disease.
Journal ArticleDOI
Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.
Catia Cavicchi,Sabrina Malvagia,G. la Marca,Serena Gasperini,M.A. Donati,Enrico Zammarchi,Renzo Guerrini,Amelia Morrone,Elisabetta Pasquini +8 more
TL;DR: In an expanded newborn screening program for inborn errors of metabolism by LC-MS/MS in Tuscany, six newborns showed decreased blood citrulline levels, and molecular analysis of the OTC gene identified the known p.Trp265Leu mutation, which is correlated with late-onset ornithine transcarbamylase deficiency (OTCD).
Journal ArticleDOI
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.
Lorenzo Ferri,Lorenzo Ferri,C Guido,C Guido,G. la Marca,Sabrina Malvagia,Catia Cavicchi,Agata Fiumara,Rita Barone,Rossella Parini,Daniela Antuzzi,Claudio Feliciani,Anna Zampetti,Raffaele Manna,Sabrina Giglio,C Della Valle,Xiaoyang Wu,Kenneth J. Valenzano,Elfrida R. Benjamin,Maria Alice Donati,Renzo Guerrini,Maurizio Genuardi,Amelia Morrone,Amelia Morrone +23 more
TL;DR: Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.