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Journal of Inherited Metabolic Disease
|
January 1, 1994
Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype
B Garavaglia, V Colamaria, F Carrara, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
January 1, 1992
Bilateral striatal necrosis, dystonia and optic atrophy in two siblings
V Leuzzi, E Bertini, A M De Negri, et al.
Pediatric Neurology
|
November 21, 1997
Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
M T García-Silva, A Ribes, Y Campos, et al.
European Journal of Biochemistry
|
May 20, 1990
Purification and properties of carnitine acetyltransferase from human liver
W Bloisi, I Colombo, B Garavaglia, et al.
Neurology
|
February 1, 1984
Systemic carnitine deficiency: clinical, biochemical, and morphological cure with L-carnitine
S Di Donato, D Pelucchetti, M Rimoldi, et al.
Journal of Inherited Metabolic Disease
|
January 5, 2002
Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency
F Invernizzi, A B Burlina, A Donadio, et al.
European Journal of Biochemistry
|
May 1, 1993
cDNA cloning and mitochondrial import of the beta-subunit of the human electron-transfer flavoprotein
G Finocchiaro, I Colombo, B Garavaglia, et al.
Neurology
|
November 1, 1994
Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency
C Antozzi, B Garavaglia, M Mora, et al.
Pediatric Neurology
|
March 30, 2000
Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency
R Pons, P Cavadini, S Baratta, et al.
Progress in Clinical and Biological Research
|
January 1, 1992
Biochemical and molecular studies of carnitine palmitoyltransferase II deficiency with hepatocardiomyopathic presentation
F Taroni, E Verderio, B Garavaglia, et al.
Page
of 5
Search research articles
Search
Showing results (11-20 of 50) with videos related to
Sort By:
Page
of 5
Journal of Inherited Metabolic Disease
|
January 1, 1994
Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype
B Garavaglia, V Colamaria, F Carrara, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
January 1, 1992
Bilateral striatal necrosis, dystonia and optic atrophy in two siblings
V Leuzzi, E Bertini, A M De Negri, et al.
Pediatric Neurology
|
November 21, 1997
Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
M T García-Silva, A Ribes, Y Campos, et al.
European Journal of Biochemistry
|
May 20, 1990
Purification and properties of carnitine acetyltransferase from human liver
W Bloisi, I Colombo, B Garavaglia, et al.
Neurology
|
February 1, 1984
Systemic carnitine deficiency: clinical, biochemical, and morphological cure with L-carnitine
S Di Donato, D Pelucchetti, M Rimoldi, et al.
Journal of Inherited Metabolic Disease
|
January 5, 2002
Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency
F Invernizzi, A B Burlina, A Donadio, et al.
European Journal of Biochemistry
|
May 1, 1993
cDNA cloning and mitochondrial import of the beta-subunit of the human electron-transfer flavoprotein
G Finocchiaro, I Colombo, B Garavaglia, et al.
Neurology
|
November 1, 1994
Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency
C Antozzi, B Garavaglia, M Mora, et al.
Pediatric Neurology
|
March 30, 2000
Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency
R Pons, P Cavadini, S Baratta, et al.
Progress in Clinical and Biological Research
|
January 1, 1992
Biochemical and molecular studies of carnitine palmitoyltransferase II deficiency with hepatocardiomyopathic presentation
F Taroni, E Verderio, B Garavaglia, et al.
Page
of 5