Sfoglia per Rivista JIMD REPORTS
Ceftriaxone for Alexander's Disease: A Four-Year Follow-Up
2013-01-01 Sechi, G; Ceccherini, I; Bachetti, T; Deiana, Ga; Sechi, E; Balbi, P
Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs)
2016-01-01 Fiumara, Agata; Barone, Rita; Del Campo, Giuliana; Striano, Pasquale; Jaeken, Jaak
Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.
2015-01-01 Biancheri, R; Lamantea, E; Severino, M; Diodato, D; Pedemonte, M; Cassandrini, D; Ploederl, A; Trucco, Federica; Fiorillo, Chiara; Minetti, Carlo; Santorelli, Fm; Zeviani, M; Bruno, C.
Mutations in GMPPB Presenting with Pseudometabolic Myopathy
2017-01-01 Panicucci, Chiara; Fiorillo, Chiara; Moro, Francesca; Astrea, Guja; Brisca, Giacomo; Trucco, Federica; Pedemonte, Marina; Lanteri, Paola; Sciarretta, Lucia; Minetti, Carlo; Santorelli, Filippo M; Bruno, Claudio
Severe hypertriglyceridemia in a newborn with monogenic lipoprotein lipase deficiency: an unconventional therapeutic approach with exchange transfusion.
2014-01-01 L, 1. 4. 5. Pugni; Riva, E; Pietrasanta, C; Rabacchi, C; Bertolini, Stefano; Pederiva, C; Mosca, F; Calandra, S.
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation
2017-01-01 Minoia, Francesca; Bertamino, Marta; Picco, Paolo; Severino, Mariasavina; Rossi, Andrea; Fiorillo, Chiara; Minetti, Carlo; Nesti, Claudia; Santorelli, Filippo Maria; Di Rocco, Maja
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Ceftriaxone for Alexander's Disease: A Four-Year Follow-Up | 1-gen-2013 | Sechi, G; Ceccherini, I; Bachetti, T; Deiana, Ga; Sechi, E; Balbi, P | |
| Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs) | 1-gen-2016 | Fiumara, Agata; Barone, Rita; Del Campo, Giuliana; Striano, Pasquale; Jaeken, Jaak | |
| Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation. | 1-gen-2015 | Biancheri, R; Lamantea, E; Severino, M; Diodato, D; Pedemonte, M; Cassandrini, D; Ploederl, A; Trucco, Federica; Fiorillo, Chiara; Minetti, Carlo; Santorelli, Fm; Zeviani, M; Bruno, C. | |
| Mutations in GMPPB Presenting with Pseudometabolic Myopathy | 1-gen-2017 | Panicucci, Chiara; Fiorillo, Chiara; Moro, Francesca; Astrea, Guja; Brisca, Giacomo; Trucco, Federica; Pedemonte, Marina; Lanteri, Paola; Sciarretta, Lucia; Minetti, Carlo; Santorelli, Filippo M; Bruno, Claudio | |
| Severe hypertriglyceridemia in a newborn with monogenic lipoprotein lipase deficiency: an unconventional therapeutic approach with exchange transfusion. | 1-gen-2014 | L, 1. 4. 5. Pugni; Riva, E; Pietrasanta, C; Rabacchi, C; Bertolini, Stefano; Pederiva, C; Mosca, F; Calandra, S. | |
| Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation | 1-gen-2017 | Minoia, Francesca; Bertamino, Marta; Picco, Paolo; Severino, Mariasavina; Rossi, Andrea; Fiorillo, Chiara; Minetti, Carlo; Nesti, Claudia; Santorelli, Filippo Maria; Di Rocco, Maja |
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