Sfoglia per Rivista JIMD REPORTS
Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165
file da validare2013-01-01 Zeevaert, R.; de Zegher, F.; Sturiale, L.; Garozzo, Domenico; Smet, M.; Moens, M.; Matthijs, G.; Jaeken, J.
COG5-CDG with a Mild Neurohepatic Presentation
file da validare2012-01-01 Fung, C. W.; Matthijs, G.; Sturiale, L.; Garozzo, Domenico; Wong, K. Y.; Wong, R.; Wong, V.; Jaeken, J.
Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype
file da validare2012-01-01 Huybrechts, S; De Laet, C; Bontems, P; Rooze, S; Souayah, H; Sznajer, Y; Sturiale, L; Garozzo, Domenico; Matthijs, G; Ferster, A; Jaeken, J; Goyens, P.
Electroclinical features of Early-Onset Epileptic Encephalopathies in congenital disorders of glycosylation (CDG)
2016-01-01 Fiumara, Agata; Barone, RITA MARIA ELISA; Del Campo, G; Striano, P; Jaeken, J.
Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica)
2016-01-01 Farruggia, P; DI CATALDO, Andrea; Pinto, Rm; Palmisani, E; Macaluso, A; Valvo, Ll; Cantarini, Me; Tornesello, A; Corti, P; Fioredda, F; Varotto, S; Martire, B; Moroni, I; Puccio, G; Russo, Giovanna; Dufour, C; Pillon, M.
Report of Two Never Treated Adult Sisters with Aromatic L-Amino Acid Decarboxilase Deficiency A Portrait of the Natural History of the Disease or an Expanding Phenotype?
2015-01-01 Leuzzi, V; Mastrangelo, M; Polizzi, A; Artiola, C; van Kuilenburg, Ab; Carducci, ; Ruggieri, Martino; Barone, RITA MARIA ELISA; Tavazzi, B; Abeling, Ng; Zoetekouw, L; Sofia, Vito; Zappia, Mario; Carducci, C.
Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?
file da validare2011-01-01 Millon, Mbb; Delgado, Ma; Azar, Nb; Guelbert, N; Sturiale, L; Garozzo, Domenico; Matthijs, G; Jaeken, J; de Kremer, Rd; Asteggiano, Cg
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165 | 1-gen-2013 | Zeevaert, R.; de Zegher, F.; Sturiale, L.; Garozzo, Domenico; Smet, M.; Moens, M.; Matthijs, G.; Jaeken, J. | file da validare |
| COG5-CDG with a Mild Neurohepatic Presentation | 1-gen-2012 | Fung, C. W.; Matthijs, G.; Sturiale, L.; Garozzo, Domenico; Wong, K. Y.; Wong, R.; Wong, V.; Jaeken, J. | file da validare |
| Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype | 1-gen-2012 | Huybrechts, S; De Laet, C; Bontems, P; Rooze, S; Souayah, H; Sznajer, Y; Sturiale, L; Garozzo, Domenico; Matthijs, G; Ferster, A; Jaeken, J; Goyens, P. | file da validare |
| Electroclinical features of Early-Onset Epileptic Encephalopathies in congenital disorders of glycosylation (CDG) | 1-gen-2016 | Fiumara, Agata; Barone, RITA MARIA ELISA; Del Campo, G; Striano, P; Jaeken, J. | |
| Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica) | 1-gen-2016 | Farruggia, P; DI CATALDO, Andrea; Pinto, Rm; Palmisani, E; Macaluso, A; Valvo, Ll; Cantarini, Me; Tornesello, A; Corti, P; Fioredda, F; Varotto, S; Martire, B; Moroni, I; Puccio, G; Russo, Giovanna; Dufour, C; Pillon, M. | |
| Report of Two Never Treated Adult Sisters with Aromatic L-Amino Acid Decarboxilase Deficiency A Portrait of the Natural History of the Disease or an Expanding Phenotype? | 1-gen-2015 | Leuzzi, V; Mastrangelo, M; Polizzi, A; Artiola, C; van Kuilenburg, Ab; Carducci, ; Ruggieri, Martino; Barone, RITA MARIA ELISA; Tavazzi, B; Abeling, Ng; Zoetekouw, L; Sofia, Vito; Zappia, Mario; Carducci, C. | |
| Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation? | 1-gen-2011 | Millon, Mbb; Delgado, Ma; Azar, Nb; Guelbert, N; Sturiale, L; Garozzo, Domenico; Matthijs, G; Jaeken, J; de Kremer, Rd; Asteggiano, Cg | file da validare |
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