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F Demaugre

Showing results (31-40 of 46) with videos related to

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Archives Francaises De Pediatrie|August 1, 1985
[Heterogeneity of carnitine palmitoyltransferase deficiencies. Deficiency of CPT I in the hepatic form and CPT II in the muscular form]J P Bonnefont, H Ogier, G Mitchell, et al.
The Journal of Pediatrics|June 1, 1993
Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiencyO N Elpeleg, A Joseph, D Branski, et al.
Molecular Genetics and Metabolism|December 23, 1999
Carnitine palmitoyltransferase deficienciesJ P Bonnefont, F Demaugre, C Prip-Buus, et al.
Pediatric Research|September 1, 1988
Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entitiesF Demaugre, J P Bonnefont, G Mitchell, 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.
The New England Journal of Medicine|July 2, 1992
Brief report: renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiencyZ C Falik-Borenstein, S C Jordan, J M Saudubray, et al.
Hepatology (Baltimore, Md.)|September 25, 1999
Hepatitis C virus core protein binds to apolipoprotein AII and its secretion is modulated by fibratesA Sabile, G Perlemuter, F Bono, et al.
Journal of Inherited Metabolic Disease|July 17, 1999
Defects in activation and transport of fatty acidsM Brivet, A Boutron, A Slama, et al.
Progress in Clinical and Biological Research|January 1, 1992
Pathophysiological approach to carnitine palmitoyltransferase II deficienciesF Demaugre, J P Bonnefont, M Brivet, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parentsM Brivet, A Slama, D S Millington, et al.
Pageof 5

Showing results (31-40 of 46) with videos related to

Sort By:
Pageof 5
Archives Francaises De Pediatrie|August 1, 1985
[Heterogeneity of carnitine palmitoyltransferase deficiencies. Deficiency of CPT I in the hepatic form and CPT II in the muscular form]J P Bonnefont, H Ogier, G Mitchell, et al.
The Journal of Pediatrics|June 1, 1993
Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiencyO N Elpeleg, A Joseph, D Branski, et al.
Molecular Genetics and Metabolism|December 23, 1999
Carnitine palmitoyltransferase deficienciesJ P Bonnefont, F Demaugre, C Prip-Buus, et al.
Pediatric Research|September 1, 1988
Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entitiesF Demaugre, J P Bonnefont, G Mitchell, 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.
The New England Journal of Medicine|July 2, 1992
Brief report: renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiencyZ C Falik-Borenstein, S C Jordan, J M Saudubray, et al.
Hepatology (Baltimore, Md.)|September 25, 1999
Hepatitis C virus core protein binds to apolipoprotein AII and its secretion is modulated by fibratesA Sabile, G Perlemuter, F Bono, et al.
Journal of Inherited Metabolic Disease|July 17, 1999
Defects in activation and transport of fatty acidsM Brivet, A Boutron, A Slama, et al.
Progress in Clinical and Biological Research|January 1, 1992
Pathophysiological approach to carnitine palmitoyltransferase II deficienciesF Demaugre, J P Bonnefont, M Brivet, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parentsM Brivet, A Slama, D S Millington, et al.
Pageof 5