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Results: 1-8 |
Results: 8
Phenotype and genotype variation in primary carnitine deficiency
Authors: Wang, YH Korman, SH Ye, J Gargus, JJ Gutman, A Taroni, F Garavaglia, B Longo, N
Citation: Yh. Wang et al., Phenotype and genotype variation in primary carnitine deficiency, GENET MED, 3(6), 2001, pp. 387-392
Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency
Authors: Invernizzi, F Burlina, AB Donadio, A Giordano, G Taroni, F Garavaglia, B
Citation: F. Invernizzi et al., Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency, J INH MET D, 24(5), 2001, pp. 601-602
Mutation analysis of the GCDH gene in Italian and Portuguese patients withglutaric aciduria type I
Authors: Busquets, C Soriano, M de Almeida, IT Garavaglia, B Rimoldi, M Rivera, I Uziel, G Cabral, A Coll, MJ Ribes, A
Citation: C. Busquets et al., Mutation analysis of the GCDH gene in Italian and Portuguese patients withglutaric aciduria type I, MOL GEN MET, 71(3), 2000, pp. 535-537
Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency
Authors: Pons, R Cavadini, P Baratta, S Invernizzi, F Lamantea, E Garavaglia, B Taroni, F
Citation: R. Pons et al., Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency, PED NEUROL, 22(2), 2000, pp. 98-105
Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion
Authors: Poggi, GM Lamantea, E Ciani, F Donati, MA Carrara, F Bartalena, L Garavaglia, B Zammarchi, E
Citation: Gm. Poggi et al., Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion, J INH MET D, 23(7), 2000, pp. 755-757
Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: Insights on treatment
Authors: Parini, R Invernizzi, F Menni, F Garavaglia, B Melotti, D Rimoldi, M Salera, S Tosetto, C Taroni, F
Citation: R. Parini et al., Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: Insights on treatment, J INH MET D, 22(6), 1999, pp. 733-739
The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy
Authors: Bruno, C Kirby, DM Koga, Y Garavaglia, B Duran, G Santorelli, FM Shield, LK Xia, WL Shanske, S Goldstein, JD Iwanaga, R Akita, Y Carrara, F Davis, A Zeviani, M Thorburn, DR DiMauro, S
Citation: C. Bruno et al., The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy, J PEDIAT, 135(2), 1999, pp. 197-202
Acute, severe cardiomyopathy as main symptom of late-onset very long-chainacyl-coenzyme A dehydrogenase deficiency
Authors: Parini, R Menni, F Garavaglia, B Fesslova, V Melotti, D Massone, ML Lamantea, E Rimoldi, M Vizziello, P Gatti, R
Citation: R. Parini et al., Acute, severe cardiomyopathy as main symptom of late-onset very long-chainacyl-coenzyme A dehydrogenase deficiency, EUR J PED, 157(12), 1998, pp. 992-995
Risultati: 1-8 |