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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

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

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

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

CT and MRI in maple syrup urine diseaseUZIEL, G; SAVOIARDO, M; NARDOCCI, N et al.Neurology. 1988, Vol 38, Num 3, pp 486-488, issn 0028-3878Article

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

Effect of testosterone metabolites on ABC half-transporter relative gene expression in x-linked adrenoleukodystrophyPETRONI, A; CAPPA, M; CARISSIMI, R et al.Journal of inherited metabolic disease. 2007, Vol 30, Num 5, pp 828-828, issn 0141-8955, 1 p.Article

New findings on X-linked adrenoleukodystrophy: 5α-reductase isoform 2 relative gene expression is modified in affected fibroblastsPETRONI, A; CAPPA, M; BLASEVICH, M et al.Neuroscience letters. 2004, Vol 367, Num 3, pp 269-272, issn 0304-3940, 4 p.Article

L-2-hydroxyglutaric aciduria : MRI in seven casesD'INCERTI, L; FARINA, L; MORONI, I et al.Neuroradiology (Berlin. Print). 1998, Vol 40, Num 11, pp 727-733, issn 0028-3940Article

Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophyUZIEL, G; GARAVAGLIA, B; CICERI, E et al.Pediatric neurology. 1995, Vol 13, Num 4, pp 333-335, issn 0887-8994Article

Experience on therapy of adrenoleukodystrophy and adrenomyeloneuropathyUZIEL, G; BERTINI, E; BARDELLI, P et al.Developmental neuroscience. 1991, Vol 13, Num 4-5, pp 274-279, issn 0378-5866Article

Primary carnitine deficiency : heterozygote and intrafamilial phenotypic variationGARAVAGLIA, B; UZIEL, G; DWORZAK, F et al.Neurology. 1991, Vol 41, Num 10, pp 1691-1693, issn 0028-3878Article

4-Hydroxybutyric aciduria : clinical finginds and vigabatrin therapyUZIEL, G; BARDELLI, P; PANTALEONI, C et al.Journal of inherited metabolic disease. 1993, Vol 16, Num 3, pp 520-522, issn 0141-8955Article

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

Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cystsBUGIANI, M; MORONI, I; BIZZI, A et al.Neuropediatrics. 2003, Vol 34, Num 4, pp 211-214, issn 0174-304X, 4 p.Article

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

A novel point mutation in a 3' splice site of the NADH-cytochrome b₅ reductase gene results in immunologically undetectable enzyme and impaired NADH-dependent ascorbate regeneration in cultured fibroblasts of a patient with type II hereditary methemoglobinemiaSHIRABE, K; LANDI, M. T; TAKESHITA, M et al.American journal of human genetics. 1995, Vol 57, Num 2, pp 302-310, issn 0002-9297Article

Cerebral white matter involvement in children with mitochondrial encephalopathiesMORONI, I; BUGIANI, M; BIZZI, A et al.Neuropediatrics. 2002, Vol 33, Num 2, pp 79-85, issn 0174-304XArticle

Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotypeGARAVAGLIA, B; COLAMARIA, V; CARRARA, F et al.Journal of inherited metabolic disease. 1994, Vol 17, Num 3, pp 301-303, issn 0141-8955Conference Paper

Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymesGELLERA, C; UZIEL, G; RIMOLDI, M et al.Neurology. 1990, Vol 40, Num 3, pp 495-499, issn 0028-3878, 5 p., 1Article

Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathiesZEVIANI, M; GELLERA, C; PANNACCI, M et al.Annals of neurology. 1990, Vol 28, Num 1, pp 94-97, issn 0364-5134, 4 p.Article

A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndromeMUNARO, M; TIRANTI, V; SANDONA, D et al.Human molecular genetics (Print). 1997, Vol 6, Num 2, pp 221-228, issn 0964-6906Article