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S Vuillaumier-Barrot Selected Research

S Vuillaumier-Barrot Research Topics

Disease

4Congenital Disorders of Glycosylation
01/2016 - 02/2000
2Glut1 Deficiency Syndrome
01/2018 - 12/2010
2Congenital disorder of glycosylation type II
03/2005 - 01/2003
1Ketosis
01/2018
1Pyruvate Dehydrogenase Complex Deficiency Disease
01/2018
1Seizures (Absence Seizure)
01/2018
1Penis agenesis
01/2016
1Cryptorchidism (Undescended Testes)
01/2016
1Deafness (Deaf Mutism)
01/2016
1Hepatocellular Carcinoma (Hepatoma)
01/2016
1Hepatomegaly
01/2016
1Muscle Hypotonia (Hypotonia)
01/2016
1Ataxia (Dyssynergia)
01/2014
1Microcephaly
01/2014
1Nervous System Diseases (Neurological Disorders)
01/2014
1Drug Resistant Epilepsy
01/2014
1Muscular Dystrophies (Muscular Dystrophy)
11/2011
1Hydrocephalus (Hydrocephaly)
01/2007
1Malformations of Cortical Development
01/2007
1Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
11/2002

Drug/Important Bio-Agent (IBA)

4Proteins (Proteins, Gene)FDA Link
11/2010 - 01/2003
2Glycoproteins (Glycoprotein)IBA
01/2016 - 02/2000
2Glucose (Dextrose)FDA LinkGeneric
01/2014 - 12/2010
2OligosaccharidesIBA
11/2010 - 01/2003
2DolicholsIBA
11/2010 - 03/2005
2Polysaccharides (Glycans)IBA
03/2005 - 01/2003
1Ketone BodiesIBA
01/2018
13-Hydroxybutyric Acid (beta-Hydroxybutyric Acid)IBA
01/2018
1dehydrodolicholIBA
01/2016
1Diphosphates (Pyrophosphates)IBA
01/2016
1Small Interfering RNA (siRNA)IBA
01/2016
1Dystroglycans (Dystroglycan)IBA
11/2011
1Guanosine Diphosphate Mannose (GDP Mannose)IBA
11/2010
1LipidsIBA
11/2010
1MannosyltransferasesIBA
11/2010
1DNA (Deoxyribonucleic Acid)IBA
01/2007
1MonosaccharidesIBA
01/2003
1EnzymesIBA
01/2003
1Congenital disorder of glycosylation type 1BIBA
11/2002

Therapy/Procedure

1Ketogenic Diet
01/2018
1Therapeutics
01/2018