Uziel, G.

Clinical and molecular findings in children with complex I deficiency

Bugiani, M., Invernizzi, F., Alberio, S., Briem, E., Lamantea, E., Carrara, F., Moroni, I., Farina, L., Spada, M., Donati, M. A., et al. (2004) · Biochimica et Biophysica Acta (BBA) - Bioenergetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

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Carnitine stimulation of pyruvate dehydrogenase complex (PDHC) in isolated human skeletal muscle mitochondria

Uziel, G., Garavaglia, B., & Di Donato, S. (1988) · Muscle & Nerve

Biochemical Acid Research StudiesMitochondrial Function and Pathology

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L-2-hydroxyglutaric aciduria and brain malignant tumors: A predisposing condition?

Moroni, I., Bugiani, M., D’Incerti, L., Maccagnano, C., Rimoldi, M., Bissola, L., Pollo, B., Finocchiaro, G., & Uziel, G. (2004) · Neurology

Metabolism and Genetic DisordersGlioma Diagnosis and Treatment

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Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

Salsano, E., Tabano, S., Sirchia, S. M., Colapietro, P., Castellotti, B., Gellera, C., Rimoldi, M., Pensato, V., Mariotti, C., Pareyson, D., et al. (2012) · Orphanet Journal of Rare Diseases

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

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