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M Brivet

Showing results (31-40 of 48) with videos related to

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Circulation|December 1, 1999
Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in childrenD Bonnet, D Martin, Pascale De Lonlay, et al.
European Journal of Pediatrics|February 1, 2000
Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiencyJ M Nuoffer, P de Lonlay, C Costa, et al.
Biochemical and Biophysical Research Communications|November 16, 1992
Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidationR J Wanders, L IJlst, F Poggi, 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.
Journal of Inherited Metabolic Disease|July 17, 1999
Defects in activation and transport of fatty acidsM Brivet, A Boutron, A Slama, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|February 8, 2005
[Congenital galactosaemia: an unusual presentation]M O Marcoux, E Laporte-Turpin, C Alberge, et al.
Revue Neurologique|July 14, 2009
[Multiple acyl-CoA dehydrogenase deficiency (MADD): a curable cause of genetic muscular lipidosis]E Maillart, C Acquaviva-Bourdain, O Rigal, et al.
Molecular Genetics and Metabolism|November 21, 2007
Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancerA Boichard, L Venet, T Naas, et al.
Acta Paediatrica (Oslo, Norway : 1992)|August 7, 2002
Long-chain 3-hydroxyacylCoA dehydrogenase deficiency: a new case presenting with liver dysfunction, cholestasis and fibrosisM H Odievre, C Sevin, J Laurent, et al.
Molecular Genetics and Metabolism|May 15, 2001
Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single familyB Z Yang, J M Mallory, D S Roe, et al.
Pageof 5

Showing results (31-40 of 48) with videos related to

Sort By:
Pageof 5
Circulation|December 1, 1999
Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in childrenD Bonnet, D Martin, Pascale De Lonlay, et al.
European Journal of Pediatrics|February 1, 2000
Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiencyJ M Nuoffer, P de Lonlay, C Costa, et al.
Biochemical and Biophysical Research Communications|November 16, 1992
Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidationR J Wanders, L IJlst, F Poggi, 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.
Journal of Inherited Metabolic Disease|July 17, 1999
Defects in activation and transport of fatty acidsM Brivet, A Boutron, A Slama, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|February 8, 2005
[Congenital galactosaemia: an unusual presentation]M O Marcoux, E Laporte-Turpin, C Alberge, et al.
Revue Neurologique|July 14, 2009
[Multiple acyl-CoA dehydrogenase deficiency (MADD): a curable cause of genetic muscular lipidosis]E Maillart, C Acquaviva-Bourdain, O Rigal, et al.
Molecular Genetics and Metabolism|November 21, 2007
Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancerA Boichard, L Venet, T Naas, et al.
Acta Paediatrica (Oslo, Norway : 1992)|August 7, 2002
Long-chain 3-hydroxyacylCoA dehydrogenase deficiency: a new case presenting with liver dysfunction, cholestasis and fibrosisM H Odievre, C Sevin, J Laurent, et al.
Molecular Genetics and Metabolism|May 15, 2001
Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single familyB Z Yang, J M Mallory, D S Roe, et al.
Pageof 5