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Results 1 to 16 of 16

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MITOCHONDRIA-LIPID-GLYCOGEN MYOPATHY HYPERLACTACIDEMIA AND CARNITINE DEFICIENCYDI DINATO S; CORNELIO F; BALESTRINI MR et al.1978; NEUROLOGY; USA; DA. 1978; VOL. 28; NO 11; PP. 1110-1116; BIBL. 24 REF.Article

Progressive dystonia symptomatic of juvenile GM2 gangliosidosisNARDOCCI, N; BERTAGNOLIO, B; RUMI, V et al.Movement disorders. 1992, Vol 7, Num 1, pp 64-67, issn 0885-3185Article

FRIEDREICH'S ATAXIA IN NORTHERN ITALY. II: BIOCHEMICAL STUDIES IN CULTURED CELLSBERTAGNOLIO B; UZIEL G; BOTTACHI E et al.1980; CAN. J. NEUROL. SCI.; ISSN 0317-1671; CAN; DA. 1980; VOL. 7; NO 4; PP. 409-412; ABS. FRE; BIBL. 14 REF.Article

FATAL CASES OF LIPID STORAGE MYOPATHY WITH CARNITINE DEFICIENCY.CORNELIO F; DI DONATO S; PELUCHETTI D et al.1977; J. NEUROL. NEUROSURG. PSYCHIATRY; G.B.; DA. 1977; VOL. 40; NO 2; PP. 170-178; BIBL. 28 REF.Article

Angiokeratoma corporis diffusum in a patient with normal enzyme activities and Turner's syndromeGASPARINI, G; SARCHI, G; CAVICCHINI, S et al.Clinical and experimental dermatology (Print). 1992, Vol 17, Num 1, pp 56-59, issn 0307-6938Article

Myoclonic epilepsy of Lafora and arylsulphatase A deficiency in the same patientBERTAGNOLIO, B; GIROTTI, F; PELUCCHETTI, D et al.Journal of inherited metabolic disease. 1989, Vol 12, Num 4, pp 458-466, issn 0141-8955Article

HETEROGENEITY OF CARNITINE-PALMITOYLTRANSFERASE DEFICIENCYDI DONATO S; CASTIGLIONE A; RIMOLDI M et al.1981; J. NEUROL. SCI.; ISSN 0022-510X; NLD; DA. 1981; VOL. 50; NO 2; PP. 207-215; BIBL. 2 P.Article

KETOGENIC RESPONSE TO FASTING IN HUMAN CARNITINE DEFICIENCIESDI DONATO S; PELUCHETTI D; RIMOLDI M et al.1980; CLIN. CHIM. ACTA; NLD; DA. 1980; VOL. 100; NO 3; PP. 209-214; BIBL. 16 REF.Article

ACID MALTASE DEFICIENCY IN ADULTS. CLINICAL, MORPHOLOGICAL AND BIOCHEMICAL STUDY OF THREE PATIENTSBERTAGNOLIO B; DI DONATO S; PELUCHETTI D et al.1978; EUROP. NEUROL.; CHE; DA. 1978; VOL. 17; NO 4; PP. 193-204; BIBL. 21 REF.Article

Defective neutrophil activity in fructose-1,6-diphosphatase deficiencyBIASUCCI, G; GIGLIOTTI, M; LUOTTI, D et al.Journal of inherited metabolic disease. 1995, Vol 18, Num 2, pp 162-164, issn 0141-8955Article

Neurological presentations of mitochondrial diseasesZEVIANI, M; BERTAGNOLIO, B; UZIEL, G et al.Journal of inherited metabolic disease. 1996, Vol 19, Num 4, pp 504-520, issn 0141-8955Conference Paper

Chronic GM1 gangliosidosis presenting as dystonia: clinical and biochemical studies in a new caseNARDOCCI, N; BERTAGNOLIO, B; RUMI, V et al.Neuropediatrics. 1993, Vol 24, Num 3, pp 164-166, issn 0174-304XConference Paper

The β-oxidation of arachidonic acid and the synthesis of docosahexaenoic acid are selectively and consistently altered in skin fibroblasts from three Zellweger patients versus X-adrenoleukodystrophy, Alzheimer and control subjectsPETRONI, A; BERTAGNOLIO, B; LA SPADA, P et al.Neuroscience letters. 1998, Vol 250, Num 3, pp 145-148, issn 0304-3940Article

Retroviral-mediated transfer of the galactocerebrosidase gene in neural progenitor cellsTORCHIANA, E; LULLI, L; CATTANEO, E et al.Neuroreport (Oxford). 1998, Vol 9, Num 17, pp 3823-3827, issn 0959-4965Article

Allogeneic bone marrow stem cell transplantation following CD34 + immunomagnetic enrichment in patients with inherited metabolic storage diseasesGAIPA, G; DASSI, M; MASERA, G et al.Bone marrow transplantation (Basingstoke). 2003, Vol 31, Num 10, pp 857-860, issn 0268-3369, 4 p.Article

Renal pathological changes in Fabry diseaseSESSA, A; MERONI, M; TOSONI, A et al.Journal of inherited metabolic disease. 2001, Vol 24, pp 66-70, issn 0141-8955, SUP2Conference Paper

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