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Muscle & Nerve
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July 1, 1988
Carnitine stimulation of pyruvate dehydrogenase complex (PDHC) in isolated human skeletal muscle mitochondria
G Uziel, B Garavaglia, S Di Donato
Human Mutation
|
November 3, 2000
Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation
Y Wang, F Taroni, B Garavaglia, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
May 16, 1984
Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency
S Di Donato, M Rimoldi, B Garavaglia, et al.
Neurology
|
October 1, 1991
Primary carnitine deficiency: heterozygote and intrafamilial phenotypic variation
B Garavaglia, G Uziel, F Dworzak, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1994
Impaired degradation of phytanic acid in cells from patients with mitochondriopathies: evidence for the involvement of ETF and the respiratory chain in phytanic acid alpha-oxidation
R Fingerhut, W Schmitz, B Garavaglia, et al.
Pediatric Neurology
|
November 1, 1995
Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy
G Uziel, B Garavaglia, E Ciceri, et al.
Italian Journal of Neurological Sciences
|
August 1, 1989
A case of Refsum disease with atypical clinical picture in family members
R Marano, P Soliveri, B Garavaglia, et al.
European Journal of Pediatrics
|
May 1, 1995
Sudden infant death and multiple acyl-CoA dehydrogenation disorders
R Parini, C Vegni, J Martini, et al.
The American Journal of Managed Care
|
June 22, 2010
Is there a relationship between early statin compliance and a reduction in healthcare utilization?
Ronald E Aubert, Jianying Yao, Fang Xia, et al.
Neurology
|
July 1, 1988
Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides
S Di Donato, B Garavaglia, P Strisciuglio, et al.
Page
of 5
Search research articles
Search
Showing results (1-10 of 50) with videos related to
Sort By:
Page
of 5
Muscle & Nerve
|
July 1, 1988
Carnitine stimulation of pyruvate dehydrogenase complex (PDHC) in isolated human skeletal muscle mitochondria
G Uziel, B Garavaglia, S Di Donato
Human Mutation
|
November 3, 2000
Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation
Y Wang, F Taroni, B Garavaglia, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
May 16, 1984
Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency
S Di Donato, M Rimoldi, B Garavaglia, et al.
Neurology
|
October 1, 1991
Primary carnitine deficiency: heterozygote and intrafamilial phenotypic variation
B Garavaglia, G Uziel, F Dworzak, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1994
Impaired degradation of phytanic acid in cells from patients with mitochondriopathies: evidence for the involvement of ETF and the respiratory chain in phytanic acid alpha-oxidation
R Fingerhut, W Schmitz, B Garavaglia, et al.
Pediatric Neurology
|
November 1, 1995
Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy
G Uziel, B Garavaglia, E Ciceri, et al.
Italian Journal of Neurological Sciences
|
August 1, 1989
A case of Refsum disease with atypical clinical picture in family members
R Marano, P Soliveri, B Garavaglia, et al.
European Journal of Pediatrics
|
May 1, 1995
Sudden infant death and multiple acyl-CoA dehydrogenation disorders
R Parini, C Vegni, J Martini, et al.
The American Journal of Managed Care
|
June 22, 2010
Is there a relationship between early statin compliance and a reduction in healthcare utilization?
Ronald E Aubert, Jianying Yao, Fang Xia, et al.
Neurology
|
July 1, 1988
Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides
S Di Donato, B Garavaglia, P Strisciuglio, et al.
Page
of 5