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Results: 1-17 |
Results: 17
Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators
Authors: Picca, S Dionisi-Vici, C Abeni, D Pastore, A Rizzo, C Orzalesi, M Sabetta, G Rizzoni, G Bartuli, A
Citation: S. Picca et al., Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators, PED NEPHROL, 16(11), 2001, pp. 862-867
Hyperinsulinism and hyperammonemia syndrome: Report of twelve unrelated patients
Authors: De Lonlay, P Benelli, C Fouque, F Ganguly, A Aral, B Dionisi-Vici, C Touati, G Heinrichs, C Rabier, D Kamoun, P Robert, JJ Stanley, C Saudubray, JM
Citation: P. De Lonlay et al., Hyperinsulinism and hyperammonemia syndrome: Report of twelve unrelated patients, PEDIAT RES, 50(3), 2001, pp. 353-357
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Authors: Salvi, S Santorelli, FM Bertini, E Boldrini, R Meli, C Donati, A Burlina, AB Rizzo, C Di Capua, M Fariello, G Dionisi-Vici, C
Citation: S. Salvi et al., Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, NEUROLOGY, 57(5), 2001, pp. 911-914
Fatal infantile leukodystrophy - A severe variant of CACH/VWM syndrome, allelic to chromosome 3q27
Authors: Francalanci, P Eymard-Pierre, E Dionisi-Vici, C Boldrini, R Piemonte, F Virgili, R Fariello, G Bosman, C Santorelli, FM Boespflug-Tanguy, O Bertini, E
Citation: P. Francalanci et al., Fatal infantile leukodystrophy - A severe variant of CACH/VWM syndrome, allelic to chromosome 3q27, NEUROLOGY, 57(2), 2001, pp. 265-270
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome
Authors: Carrozzo, R Tessa, A Vazquez-Memije, ME Piemonte, F Patrono, C Malandrini, A Dionisi-Vici, C Vilarinho, L Villanova, M Schagger, H Federico, A Bertini, E Santorelli, F
Citation: R. Carrozzo et al., The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome, NEUROLOGY, 56(5), 2001, pp. 687-690
X-linked congenital ataxia: A clinical and genetic study
Authors: Bertini, E des Portes, V Zanni, G Santorelli, F Dionisi-Vici, C Vicari, S Fariello, G Chelly, J
Citation: E. Bertini et al., X-linked congenital ataxia: A clinical and genetic study, AM J MED G, 92(1), 2000, pp. 53-56
Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome
Authors: Patrono, C Rizzo, C Tessa, A Giannotti, A Borrelli, P Carrozzo, R Piemonte, F Bertini, E Dionisi-Vici, C Santorelli, FM
Citation: C. Patrono et al., Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome, AM J MED G, 91(2), 2000, pp. 138-140
Oxidative abnormalities in Menkes disease
Authors: Rizzo, C Bertini, E Piemonte, F Leuzzi, V Sabetta, G Federici, G Luchetti, A Dionisi-Vici, C
Citation: C. Rizzo et al., Oxidative abnormalities in Menkes disease, J INH MET D, 23(4), 2000, pp. 349-351
Carbohydrate-deficient glycoprotein syndromes: The Italian experience
Authors: Di Rocco, M Barone, R Adami, A Burlina, A Carrozzi, M Dionisi-Vici, C Gatti, R Iannetti, P Parini, R Raucci, U Roccella, M Spada, M Fiumara, A
Citation: M. Di Rocco et al., Carbohydrate-deficient glycoprotein syndromes: The Italian experience, J INH MET D, 23(4), 2000, pp. 391-395
Ataxia, deafness, leukodystrophy: Inherited disorder of the white matter in three related patients
Authors: Leuzzi, V Rinna, A Gallucci, M Di Capua, M Dionisi-Vici, C Longo, D Bertini, E
Citation: V. Leuzzi et al., Ataxia, deafness, leukodystrophy: Inherited disorder of the white matter in three related patients, NEUROLOGY, 54(12), 2000, pp. 2325-2328
Tyrosine hydroxylase deficiency with severe clinical course: Clinical and biochemical investigations and optimization of therapy
Authors: Dionisi-Vici, C Hoffmann, GF Leuzzi, V Hoffken, H Brautigam, C Rizzo, C Steebergen-Spanjers, GCH Smeitink, JAM Wevers, RA
Citation: C. Dionisi-vici et al., Tyrosine hydroxylase deficiency with severe clinical course: Clinical and biochemical investigations and optimization of therapy, J PEDIAT, 136(4), 2000, pp. 560-562
A simple and rapid HPLC method for simultaneous determination of plasma 7-dehydrocholesterol and vitamin E: its application in Smith-Lemli-Opitz patients
Authors: Rizzo, C Dionisi-Vici, C D'Ippoliti, M Fina, F Sabetta, G Federici, G
Citation: C. Rizzo et al., A simple and rapid HPLC method for simultaneous determination of plasma 7-dehydrocholesterol and vitamin E: its application in Smith-Lemli-Opitz patients, CLIN CHIM A, 291(1), 2000, pp. 97-102
N-acetylaspartylglutamate in Canavan disease: an adverse effector?
Authors: Burlina, AP Ferrari, V Divry, P Gradowska, W Jakobs, C Bennett, MJ Sewell, AC Dionisi-Vici, C Burlina, AB
Citation: Ap. Burlina et al., N-acetylaspartylglutamate in Canavan disease: an adverse effector?, EUR J PED, 158(5), 1999, pp. 406-409
Pyroglutamic aciduria and nephropathic cystinosis
Authors: Rizzo, C Ribes, A Pastore, A Dionisi-Vici, C Greco, M Rizzoni, G Federici, G
Citation: C. Rizzo et al., Pyroglutamic aciduria and nephropathic cystinosis, J INH MET D, 22(3), 1999, pp. 224-226
Microheterogeneity of serum glycoproteins in patients with chronic alcoholabuse compared with carbohydrate-deficient glycoprotein syndrome type I
Authors: Henry, H Froehlich, F Perret, R Tissot, JD Eilers-Messerli, B Lavanchy, D Dionisi-Vici, C Gonvers, JJ Bachmann, C
Citation: H. Henry et al., Microheterogeneity of serum glycoproteins in patients with chronic alcoholabuse compared with carbohydrate-deficient glycoprotein syndrome type I, CLIN CHEM, 45(9), 1999, pp. 1408-1413
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency
Authors: Brautigam, C Steenbergen-Spanjers, GCH Hoffmann, GF Dionisi-Vici, C van den Heuvel, LPWJ Smeitink, JAM Wevers, RA
Citation: C. Brautigam et al., Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency, CLIN CHEM, 45(12), 1999, pp. 2073-2078
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
Authors: Tiranti, V Hoertnagel, K Carrozzo, R Galimberti, C Munaro, M Granatiero, M Zelante, L Gasparini, P Marzella, R Rocchi, M Bayona-Bafaluy, MP Enriquez, JA Uziel, G Bertini, E Dionisi-Vici, C Franco, B Meitinger, T Zeviani, M
Citation: V. Tiranti et al., Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency, AM J HU GEN, 63(6), 1998, pp. 1609-1621
Risultati: 1-17 |