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Michèle Brivet Selected Research

Carnitine palmitoyl transferase 2 deficiency

1/2022Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development.
12/2010Post-mortem MRI reveals CPT2 deficiency after sudden infant death.
5/2009Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.

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Michèle Brivet Research Topics

Disease

5Lactic Acidosis
07/2012 - 04/2003
4Pyruvate Dehydrogenase Complex Deficiency Disease
02/2010 - 04/2006
3Galactosemias (Galactosemia)
11/2012 - 03/2008
2Hepatomegaly
09/2013 - 01/2012
2Vomiting
10/2010 - 03/2008
2Rhabdomyolysis
05/2009 - 06/2006
2Intellectual Disability (Idiocy)
04/2005 - 04/2003
1Schizencephaly
01/2022
1Polymicrogyria
01/2022
1Metabolic Diseases (Metabolic Disease)
09/2013
1Hypoglycemia (Reactive Hypoglycemia)
01/2012
1Sudden Infant Death (SID)
12/2010
1Ethylmalonic encephalopathy
12/2010
1Medium chain acyl CoA dehydrogenase deficiency
10/2010
1Coma (Comas)
10/2010
1Seizures (Absence Seizure)
10/2010
1VLCAD deficiency
05/2009
1Adult-onset citrullinemia type 2
03/2008
1Inborn Genetic Diseases (Disease, Hereditary)
02/2007
1Cataract (Cataracts)
06/2006
1Hypoparathyroidism
06/2006
1Disease Progression
04/2006

Drug/Important Bio-Agent (IBA)

5Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA
02/2010 - 12/2005
4Fatty Acids (Saturated Fatty Acids)IBA
09/2013 - 06/2006
3Carnitine palmitoyl transferase 2 deficiencyIBA
01/2022 - 05/2009
2UTP-Hexose-1-Phosphate Uridylyltransferase (UTP Hexose 1 Phosphate Uridylyltransferase)IBA
11/2012 - 03/2008
2Amino AcidsFDA Link
07/2012 - 03/2008
2Galactose (Galactopyranose)FDA LinkGeneric
01/2011 - 03/2008
2Oxidoreductases (Dehydrogenase)IBA
04/2005 - 04/2003
2Messenger RNA (mRNA)IBA
04/2005 - 04/2003
2Pyruvic Acid (Pyruvate)IBA
04/2005 - 04/2003
1Alanine Transaminase (SGPT)IBA
09/2013
1NucleotidesIBA
01/2012
1Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)IBA
01/2012
1Hydrogen Sulfide (Sulfide, Hydrogen)IBA
12/2010
1DioxygenasesIBA
12/2010
1Hypoglycemic Agents (Hypoglycemics)IBA
10/2010
1Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA
10/2010
1Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA
05/2009
1EnzymesIBA
03/2008
1CitrullineIBA
03/2008
1Complement System Proteins (Complement)IBA
02/2007
1Sodium Bicarbonate (Baking Soda)FDA LinkGeneric
06/2006
1Parathyroid Hormone (Parathormone)IBA
06/2006
1Carrier Proteins (Binding Protein)IBA
04/2006
1Proteins (Proteins, Gene)FDA Link
04/2005
1Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA
07/2003