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SKELETAL MUSCLE NADU+ (P) AND NADPU+-DEPENDENT MALIC ENZYME IN FRIEDREICH'S ATAXIABOTTACCHI E; DI DONATO S.1983; NEUROLOGY; ISSN 0028-3878; USA; DA. 1983; VOL. 33; NO 6; PP. 712-716; BIBL. 18 REF.Article

THE SYNDROME OF CARNITINE DEFICIENCY.DI DONATO S; CORNELIO F.1976; RIV. PATOL. NERV. MENTALE; ITAL.; DA. 1976 PARU 1977; VOL. 97; NO 4; PP. 181-185; ABS. ITAL.; BIBL. 6 REF.Article

MEMBRANE ADSORPTION AND INTERNALIZATION OF (14C) CHLOROQUINE BY CULTURED HUMAN FIBROBLASTS.DI DONATO S; WIESMANN UN; HERSCHKOWITZ N et al.1977; BIOCHEM. PHARMACOL.; G.B.; DA. 1977; VOL. 26; NO 1; PP. 7-10; BIBL. 11 REF.Article

HEPATIC KETOGENESIS AND MUSCLE CARNITINE DEFICIENCYDI DONATO S; CORNELIO F; STORCHI G et al.1979; NEUROLOGY; USA; DA. 1979; VOL. 29; NO 6; PP. 780-785; BIBL. 20 REF.Article

DIAGNOSTICA ENZIMATICA DELLE GLICOLIPIDOSI = DIAGNOSTIC ENZYMATIQUE DES GLYCOLIPIDOSESZAMBOTTI V; DI DONATO S; RIMOLDI M et al.1972; QUAD. SCLAVO DIAGNOST. CLIN. LAB.; ITAL.; DA. 1972; VOL. 8; NO 1; PP. 183-198; ABS. ANGL.; BIBL. 13REF.Serial Issue

MULTIPLE ABNORMALITIES OF ECTOGLYCOSYLTRANSFERASES IN CULTURED FIBROBLASTS FROM PATIENTS WITH MUCOLIPIDOSIS II: POSSIBLE INDICATION FOR ABNORMAL PLASMA MEMBRANE GLYCOPROTEINS.DI DONATO S; WIESMANN UN; ROSSI E et al.1977; PEDIATR. RES.; U.S.A.; DA. 1977; VOL. 11; NO 10 PART. 2; PP. 1094-1096; BIBL. 16 REF.Article

EVIDENCE FOR AUTOSOMAL RECESSIVE INHERITANCE IN SYSTEMIC CARNITINE DEFICIENCYDI DONATO S; RIMOLDI M; CORNELIO F et al.1982; ANN. NEUROL.; ISSN 0364-5134; USA; DA. 1982; VOL. 11; NO 2; PP. 190-192; BIBL. 9 REF.Article

CHERRY-RED SPOT MYOCLONUS SYNDROME AND ALPHA -NEURAMINIDASE DEFICIENCY: NEUROPHYSIOLOGICAL PHARMACOLOGICAL AND BIOCHEMICAL STUDY IN AND ADULTFRANCESCHETTI S; UZIEL G; DI DONATO S et al.1980; J. NEUROL. NEUROSURG. PSYCHIATR.; ISSN 0022-3050; GBR; DA. 1980; VOL. 43; NO 10; PP. 934-940; BIBL. 30 REF.Article

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

CYTOCHROME-C-OXIDASE DEFICIENCY IN MUSCLES OF A FLOPPY INFANT WITHOUT MITOCHONDRIAL MYOPATHYRIMOLDI M; BOTTACCHI E; ROSSI L et al.1982; J. NEUROL.; ISSN 506702; DEU; DA. 1982; VOL. 227; NO 4; PP. 201-207; ABS. GER; BIBL. 19 REF.Article

FRIEDREICH'S ATAXIA IN NORTHERN ITALY: CLINICAL, NEUROPHYSIOLOGICAL AND IN VIVO BIOCHEMICAL STUDIESD'ANGELO A; DI DONATO S; NEGRI G et al.1980; CAN. J. NEUROL. SCI.; ISSN 0317-1671; CAN; DA. 1980; VOL. 7; NO 4; PP. 359-365; ABS. FRE; BIBL. 35 REF.Article

Glutamate dehydrogenase in olivopontocerebellar atrophies: leukocytes, fibroblasts, and muscle mitochondriaFINOCCHIARO, G; TARONI, F; DI DONATO, S et al.Neurology. 1986, Vol 36, Num 4, pp 550-553, issn 0028-3878Article

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

Carnitine stimulation of pyruvate dehydrogenase complex (PDHC) in isolated human skeletal muscle mitochondriaUZIEL, G; GARAVAGLIA, B; DI DONATO, S et al.Muscle & nerve. 1988, Vol 11, Num 7, pp 720-724, issn 0148-639XArticle

Evidence for two distinct mitochondrial malic enzymes in human skeletal muscle: purification and properties of the NAD(P)+-dependent enzymeTARONI, F; GELLERA, C; DI DONATO, S et al.Biochimica et biophysica acta. 1987, Vol 916, Num 3, pp 446-454, issn 0006-3002Article

Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiencyDI DONATO, S; RIMOLDI, M; GARAVAGLIA, B et al.Clinica chimica acta. 1984, Vol 139, Num 1, pp 13-21, issn 0009-8981Article

Disorders related to mitochondrial membranes: Pathology of the respiratory chain and neurodegenerationDI DONATO, S.Journal of inherited metabolic disease. 2000, Vol 23, Num 3, pp 247-263, issn 0141-8955Conference Paper

INCIDENCE OF FRIEDREICH ATAXIA IN ITALY ESTIMATED FROM CONSANGUINEOUS MARRIAGESROMEO G; MENOZZI P; FERLINI A et al.1983; AMERICAN JOURNAL OF HUMAN GENETICS; ISSN 0002-9297; USA; DA. 1983; VOL. 35; NO 3; PP. 523-529; BIBL. 12 REF.Article

Emerging treatments in myopathiesANTOZZI, C; CONFALONIERI, P; MANTEGAZZA, R et al.European neurology. 1997, Vol 38, Num 3, pp 222-229, issn 0014-3022Article

Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglyceridesDI DONATO, S; GARAVAGLIA, B; STRISCIUGLIO, P et al.Neurology. 1988, Vol 38, Num 7, pp 1107-1110, issn 0028-3878Article

An approach using lecithin treatment for olivopontocerebellar atrophiesFINOCCHIARO, G; DI DONATO, S; MADONNA, M et al.European neurology. 1985, Vol 24, Num 6, pp 414-421, issn 0014-3022Article

Systemic carnitine deficiency: clinical, biochemical, and morphological cure with L-carnitineDI DONATO, S; PELUCCHETTI, D; RIMOLDI, M et al.Neurology. 1984, Vol 34, Num 2, pp 157-162, issn 0028-3878Article

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