C Champod|F Taroni - JoVE Visualize

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Human Molecular Genetics|January 1, 1995

Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutationsE Verderio, P Cavadini, L Montermini, et al.

Neuromuscular Disorders : NMD|May 5, 1998

Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuriaC Minetti, B Garavaglia, M Bado, et al.

Journal of Inherited Metabolic Disease|September 3, 1999

Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatmentR Parini, F Invernizzi, F Menni, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 21, 2001

Phenotype and genotype variation in primary carnitine deficiencyY Wang, S H Korman, J Ye, et al.

Gastroenterology|September 1, 1995

The risk of adenomatous polyps in asymptomatic first-degree relatives of persons with colon cancerF Bazzoli, S Fossi, S Sottili, et al.

American Journal of Human Genetics|May 1, 1996

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expressionJ P Bonnefont, F Taroni, P Cavadini, et al.

Hepatology (Baltimore, Md.)|November 1, 1982

Ursodeoxycholic acid vs. chenodeoxycholic acid as cholesterol gallstone-dissolving agents: a comparative randomized studyE Roda, F Bazzoli, A M Labate, et al.

Neuroscience Letters|September 11, 2012

Novel and recurrent spastin mutations in a large series of SPG4 Italian familiesL Nanetti, S Baratta, M Panzeri, et al.

Human Mutation|May 26, 1998

Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypesK Wataya, J Akanuma, P Cavadini, et al.

Hepatology (Baltimore, Md.)|September 1, 1983

Diagnostic effectiveness of serum bile acids in liver diseases as evaluated by multivariate statistical methodsD Festi, A M Morselli Labate, A Roda, et al.

Pageof 16

Showing results (131-140 of 155) with videos related to

Sort By:

Pageof 16

Human Molecular Genetics|January 1, 1995

Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutationsE Verderio, P Cavadini, L Montermini, et al.

Neuromuscular Disorders : NMD|May 5, 1998

Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuriaC Minetti, B Garavaglia, M Bado, et al.

Journal of Inherited Metabolic Disease|September 3, 1999

Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatmentR Parini, F Invernizzi, F Menni, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 21, 2001

Phenotype and genotype variation in primary carnitine deficiencyY Wang, S H Korman, J Ye, et al.

Gastroenterology|September 1, 1995

The risk of adenomatous polyps in asymptomatic first-degree relatives of persons with colon cancerF Bazzoli, S Fossi, S Sottili, et al.

American Journal of Human Genetics|May 1, 1996

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expressionJ P Bonnefont, F Taroni, P Cavadini, et al.

Hepatology (Baltimore, Md.)|November 1, 1982

Ursodeoxycholic acid vs. chenodeoxycholic acid as cholesterol gallstone-dissolving agents: a comparative randomized studyE Roda, F Bazzoli, A M Labate, et al.

Neuroscience Letters|September 11, 2012

Novel and recurrent spastin mutations in a large series of SPG4 Italian familiesL Nanetti, S Baratta, M Panzeri, et al.

Human Mutation|May 26, 1998

Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypesK Wataya, J Akanuma, P Cavadini, et al.

Hepatology (Baltimore, Md.)|September 1, 1983

Diagnostic effectiveness of serum bile acids in liver diseases as evaluated by multivariate statistical methodsD Festi, A M Morselli Labate, A Roda, et al.

Pageof 16