Cinzia Gellera
0000-0002-3582-665X
Fondazione IRCCS Istituto Neurologico Carlo Besta
127 papers found
Refreshing results…
Fumarase deficiency is an autosornal recessive encephalopathy ffecting both the mitochondrial and the cytosolic enzymes
Short-chain and medium-chain acylCoA dehydrogenases are lowered in riboflavin-responsive lipid myopathies with multiple acylCoA dehydrogenase deficiency.
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy
The contribution of biochemistry to the diagnosis of muscular diseases | Il contributo della biochimica alla diagnostica delle malattie muscolari.
Evidence for two distinct mitochondrial malic enzymes in human skeletal muscle: purification and properties of the NAD(P)+-dependent enzyme
Myoadenylate deaminase deficiency in twins with recessive olivopontocerebellar atrophy
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