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Results: 1-8 |
Results: 8
MILD OR ABSENT CLINICAL SIGNS IN TWIN SISTERS WITH SHORT-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
Authors: RIBES A RIUDOR E GARAVAGLIA B MARTINEZ G ARRANZ A INVERNIZZI F BRIONES P LAMANTEA E SENTIS M BARCELO A ROIG M
Citation: A. Ribes et al., MILD OR ABSENT CLINICAL SIGNS IN TWIN SISTERS WITH SHORT-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY, European journal of pediatrics, 157(4), 1998, pp. 317-320
FUMARATE HYDRATASE DEFICIENCY
Authors: BONIOLI E DISTEFANO A PERI V CARUSO U CERONE R LAMANTEA E TARONI F BELLINI C
Citation: E. Bonioli et al., FUMARATE HYDRATASE DEFICIENCY, Journal of inherited metabolic disease, 21(4), 1998, pp. 435-436
A SINGLE-CELL COMPLEMENTATION CLASS IS COMMON TO SEVERAL CASES OF CYTOCHROME-C OXIDASE-DEFECTIVE LEIGHS SYNDROME
Authors: MUNARO M TIRANTI V SANDONA D LAMANTEA E UZIEL G BISSON R ZEVIANI M
Citation: M. Munaro et al., A SINGLE-CELL COMPLEMENTATION CLASS IS COMMON TO SEVERAL CASES OF CYTOCHROME-C OXIDASE-DEFECTIVE LEIGHS SYNDROME, Human molecular genetics, 6(2), 1997, pp. 221-228
MITOCHONDRIAL DISEASE-ASSOCIATED WITH THE T8993G MUTATION OF THE MITOCHONDRIAL ATPASE-6 GENE - A CLINICAL, BIOCHEMICAL, AND MOLECULAR STUDYIN 6 FAMILIES
Authors: UZIEL G MORONI I LAMANTEA E FRATTA GM CICERI E CARRARA F ZEVIANI M
Citation: G. Uziel et al., MITOCHONDRIAL DISEASE-ASSOCIATED WITH THE T8993G MUTATION OF THE MITOCHONDRIAL ATPASE-6 GENE - A CLINICAL, BIOCHEMICAL, AND MOLECULAR STUDYIN 6 FAMILIES, Journal of Neurology, Neurosurgery and Psychiatry, 63(1), 1997, pp. 16-22
NUCLEAR-DNA ORIGIN OF CYTOCHROME-C-OXIDASE DEFICIENCY IN LEIGHS SYNDROME - GENETIC-EVIDENCE BASED ON PATIENTS-DERIVED RHO-DEGREES TRANSFORMANTS
Authors: TIRANTI V MUNARO M SANDONA D LAMANTEA E RIMOLDI M DIDONATO S BISSON R ZEVIANI M
Citation: V. Tiranti et al., NUCLEAR-DNA ORIGIN OF CYTOCHROME-C-OXIDASE DEFICIENCY IN LEIGHS SYNDROME - GENETIC-EVIDENCE BASED ON PATIENTS-DERIVED RHO-DEGREES TRANSFORMANTS, Human molecular genetics, 4(11), 1995, pp. 2017-2023
CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY - STRUCTURE OF THE GENE AND CHARACTERIZATION OF 2 NOVEL DISEASE-CAUSING MUTATIONS
Authors: VERDERIO E CAVADINI P MONTERMINI L WANG HW LAMANTEA E FINOCCHIARO G DIDONATO S GELLERA C TARONI F
Citation: E. Verderio et al., CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY - STRUCTURE OF THE GENE AND CHARACTERIZATION OF 2 NOVEL DISEASE-CAUSING MUTATIONS, Human molecular genetics, 4(1), 1995, pp. 19-29
USE OF PATIENT-DERIVED RHO-DEGREES CELLS TO ASSIGN THE NUCLEAR OR MITOCHONDRIAL ORIGIN OF DEFECTS OF THE RESPIRATORY-CHAIN COMPLEXES
Authors: ZEVIANI M TIRANTI V MUNARO M SANDONA D LAMANTEA E DIDONATO S BISSON R
Citation: M. Zeviani et al., USE OF PATIENT-DERIVED RHO-DEGREES CELLS TO ASSIGN THE NUCLEAR OR MITOCHONDRIAL ORIGIN OF DEFECTS OF THE RESPIRATORY-CHAIN COMPLEXES, American journal of human genetics, 57(4), 1995, pp. 1058-1058
THE MOLECULAR-BASES OF CARNITINE PALMITOYLTRANSFERASE (CPT)-II DEFICIENCY
Authors: TARONI F VERDERIO E CAVADINI P LAMANTEA E GELLERA C DIDONATO S
Citation: F. Taroni et al., THE MOLECULAR-BASES OF CARNITINE PALMITOYLTRANSFERASE (CPT)-II DEFICIENCY, American journal of human genetics, 53(3), 1993, pp. 155-155
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