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Marie Abitbol Selected Research

Endplate Acetylcholinesterase Deficiency

1/2015A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome.

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Marie Abitbol Research Topics

Disease

4Erythropoietic Protoporphyria
10/2011 - 01/2005
1Endplate Acetylcholinesterase Deficiency
01/2015
1Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
01/2015
1Cholestasis
10/2011
1Digestive System Diseases
10/2011
1Fibrosis (Cirrhosis)
10/2011
1Sclerosing Cholangitis
10/2011
1Liver Failure
10/2011
1Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)
08/2010
1Hypochromic Anemia (Chlorosis)
01/2007
1Iron Deficiencies
01/2007
1Iron-Deficiency Anemia (Anemia, Iron Deficiency)
01/2007
1Hepatomegaly
01/2005

Drug/Important Bio-Agent (IBA)

4protoporphyrin IXIBA
10/2011 - 01/2005
2Ferrochelatase (Heme Synthetase)IBA
10/2011 - 01/2007
2Proteins (Proteins, Gene)FDA Link
08/2010 - 01/2007
2EnzymesIBA
01/2007 - 01/2005
2Heme (Haem)IBA
01/2007 - 06/2005
1AcetylcholinesteraseIBA
01/2015
1CollagenIBA
01/2015
1Indicators and Reagents (Reagents)IBA
10/2011
1Bile Acids and Salts (Bile Acids)IBA
10/2011
1SulfatasesIBA
08/2010
1ArylsulfatasesIBA
08/2010
1Transferrin (beta 2 Transferrin)IBA
01/2007
1IronIBA
01/2007
1Transferrin Receptors (Transferrin Receptor)IBA
01/2007
1Messenger RNA (mRNA)IBA
01/2007

Therapy/Procedure

1Liver Transplantation
10/2011