CAVICCHI, CATIA
CAVICCHI, CATIA
Neuroscienze, Psicologia, Area del Farmaco e Salute del Bambino (NEUROFARBA)
Combined deletions of GALNS and PIEZO1 genes in two patients affected by MorquioA syndrome
2014 Caciotti, A.; Tonin, R.; Ferri, L.; Catarzi, S.; Cavicchi, C.; Parini, R.; Rigoldi, M.; Scarpa, M.; Giovannini, I.; Mooney, S. D.; Pantaleo, M.; Giglio, S.; Procopio, E.; Donati, M. A.; Guerrini, R.; Morrone, A.
Late-onset n-acetylglutamate synthase deficiency: Report of a paradigmatic adult case presenting with headaches and review of the literature
2018 Cavicchi, Catia; Chilleri, Chiara; Fioravanti, Antonella; Ferri, Lorenzo; Ripandelli, Francesco; Costa, Cinzia; Calabresi, Paolo; Prontera, Paolo; Pochiero, Francesca; Pasquini, Elisabetta; Funghini, Silvia; La Marca, Giancarlo; Donati, Maria Alice; Morrone, Amelia
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.
2013 Catarzi S; Caciotti A; Thusberg J; Tonin R; Malvagia S; la Marca G; Pasquini E; Cavicchi C; Ferri L; Donati MA; Baronio F; Guerrini R; Mooney SD; Morrone A.
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients
2017 Bacci, Gm; Donati, Ma; Pasquini, E; Munier, F; Cavicchi, C; Morrone, A; Sodi, A; Murro, V; Garcia Segarra, N; Defilippi, C; Bussolin, L; Caputo, R.
Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease
2016 Ferri, Lorenzo; Cavicchi, Catia; Fiumara, Agata; Parini, Rossella; Guerrini, Renzo; Morrone, Amelia
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations
2021 Cavicchi C.; Oussalah A.; Falliano S.; Ferri L.; Gozzini A.; Gasperini S.; Motta S.; Rigoldi M.; Parenti G.; Tummolo A.; Meli C.; Menni F.; Furlan F.; Daniotti M.; Malvagia S.; la Marca G.; Chery C.; Morange P.-E.; Tregouet D.; Donati M.A.; Guerrini R.; Gueant J.-L.; Morrone A.
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
2014 Cavicchi C; Donati M; Parini R; Rigoldi M; Bernardi M; Orfei F; Gentiloni Silveri N; Colasante A; Funghini S; Catarzi S; Pasquini E; la Marca G; Mooney S; Guerrini R; Morrone A.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Combined deletions of GALNS and PIEZO1 genes in two patients affected by MorquioA syndrome | 2014 | Caciotti, A.; Tonin, R.; Ferri, L.; Catarzi, S.; Cavicchi, C.; Parini, R.; Rigoldi, M.; Scarpa, M.; Giovannini, I.; Mooney, S. D.; Pantaleo, M.; Giglio, S.; Procopio, E.; Donati, M. A.; Guerrini, R.; Morrone, A. | |
| Late-onset n-acetylglutamate synthase deficiency: Report of a paradigmatic adult case presenting with headaches and review of the literature | 2018 | Cavicchi, Catia; Chilleri, Chiara; Fioravanti, Antonella; Ferri, Lorenzo; Ripandelli, Francesco; Costa, Cinzia; Calabresi, Paolo; Prontera, Paolo; Pochiero, Francesca; Pasquini, Elisabetta; Funghini, Silvia; La Marca, Giancarlo; Donati, Maria Alice; Morrone, Amelia | |
| Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies. | 2013 | Catarzi S; Caciotti A; Thusberg J; Tonin R; Malvagia S; la Marca G; Pasquini E; Cavicchi C; Ferri L; Donati MA; Baronio F; Guerrini R; Mooney SD; Morrone A. | |
| Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients | 2017 | Bacci, Gm; Donati, Ma; Pasquini, E; Munier, F; Cavicchi, C; Morrone, A; Sodi, A; Murro, V; Garcia Segarra, N; Defilippi, C; Bussolin, L; Caputo, R. | |
| Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease | 2016 | Ferri, Lorenzo; Cavicchi, Catia; Fiumara, Agata; Parini, Rossella; Guerrini, Renzo; Morrone, Amelia | |
| PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations | 2021 | Cavicchi C.; Oussalah A.; Falliano S.; Ferri L.; Gozzini A.; Gasperini S.; Motta S.; Rigoldi M.; Parenti G.; Tummolo A.; Meli C.; Menni F.; Furlan F.; Daniotti M.; Malvagia S.; la Marca G.; Chery C.; Morange P.-E.; Tregouet D.; Donati M.A.; Guerrini R.; Gueant J.-L.; Morrone A. | |
| Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment. | 2014 | Cavicchi C; Donati M; Parini R; Rigoldi M; Bernardi M; Orfei F; Gentiloni Silveri N; Colasante A; Funghini S; Catarzi S; Pasquini E; la Marca G; Mooney S; Guerrini R; Morrone A. |