DI LEO, ENZA
DI LEO, ENZA
Dipartimento di Scienze della Vita
Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia.
2017 Di Costanzo, A; Di Leo, E; Noto, D; Cefalù, Ab; Minicocci, I; Polito, L; D'Erasmo, L; Cantisani, V; Spina, R; Tarugi, P; Averna, M; Arca, M.
Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B
2016 Yilmaz, Berna Seker; Mungan, Neslihan Onenli; Di Leo, Enza; Magnolo, Lucia; Artuso, Lucia; Bernardis, Isabella; Tumgor, Gokhan; Kor, Deniz; Tarugi, Patrizia Maria
In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia
2019 Rabacchi, C.; Simone, M. L.; Pisciotta, L.; Di Leo, E.; Bocchi, D.; Pietrangelo, A.; D'Addato, S.; Bertolini, S.; Calandra, S.; Tarugi, P.
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function
2015 Walsh, Meghan T.; Iqbal, Jahangir; Josekutty, Joby; Soh, James; Di Leo, Enza; Özaydin, Eda; Gündüz, Mehmet; Tarugi, Patrizia Maria; Hussain, M. Mahmood
Novel mutations of SAR1B gene in four children with chylomicron retention disease
2019 Simone, M. L.; Rabacchi, C.; Kuloglu, Z.; Kansu, A.; Ensari, A.; Demir, A. M.; Hizal, G.; Di Leo, E.; Bertolini, S.; Calandra, S.; Tarugi, P.
Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects
2016 Walsh, Mt; Di Leo, Enza; Okur, I; Tarugi, Patrizia Maria; Hussain, M. M.
The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations
2015 DI LEO, Enza; Eminoglu, Tuba; Magnolo, Antonia Lucia; Bolkent, Musa Gökalp; Tümer, Leyla; Okur, Ilyas; Tarugi, Patrizia Maria
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia. | 1-gen-2017 | Di Costanzo, A; Di Leo, E; Noto, D; Cefalù, Ab; Minicocci, I; Polito, L; D'Erasmo, L; Cantisani, V; Spina, R; Tarugi, P; Averna, M; Arca, M. | |
| Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B | 1-gen-2016 | Yilmaz, Berna Seker; Mungan, Neslihan Onenli; Di Leo, Enza; Magnolo, Lucia; Artuso, Lucia; Bernardis, Isabella; Tumgor, Gokhan; Kor, Deniz; Tarugi, Patrizia Maria | |
| In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia | 1-gen-2019 | Rabacchi, C.; Simone, M. L.; Pisciotta, L.; Di Leo, E.; Bocchi, D.; Pietrangelo, A.; D'Addato, S.; Bertolini, S.; Calandra, S.; Tarugi, P. | |
| Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function | 1-gen-2015 | Walsh, Meghan T.; Iqbal, Jahangir; Josekutty, Joby; Soh, James; Di Leo, Enza; Özaydin, Eda; Gündüz, Mehmet; Tarugi, Patrizia Maria; Hussain, M. Mahmood | |
| Novel mutations of SAR1B gene in four children with chylomicron retention disease | 1-gen-2019 | Simone, M. L.; Rabacchi, C.; Kuloglu, Z.; Kansu, A.; Ensari, A.; Demir, A. M.; Hizal, G.; Di Leo, E.; Bertolini, S.; Calandra, S.; Tarugi, P. | |
| Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects | 1-gen-2016 | Walsh, Mt; Di Leo, Enza; Okur, I; Tarugi, Patrizia Maria; Hussain, M. M. | |
| The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations | 1-gen-2015 | DI LEO, Enza; Eminoglu, Tuba; Magnolo, Antonia Lucia; Bolkent, Musa Gökalp; Tümer, Leyla; Okur, Ilyas; Tarugi, Patrizia Maria |