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S Vuillaumier-Barrot Selected Research
S Vuillaumier-Barrot Research Topics
Disease
4
Congenital Disorders of Glycosylation
01/2016 - 02/2000
2
Glut1 Deficiency Syndrome
01/2018 - 12/2010
2
Congenital disorder of glycosylation type II
03/2005 - 01/2003
1
Ketosis
01/2018
1
Pyruvate Dehydrogenase Complex Deficiency Disease
01/2018
1
Seizures (Absence Seizure)
01/2018
1
Penis agenesis
01/2016
1
Cryptorchidism (Undescended Testes)
01/2016
1
Deafness (Deaf Mutism)
01/2016
1
Hepatocellular Carcinoma (Hepatoma)
01/2016
1
Hepatomegaly
01/2016
1
Muscle Hypotonia (Hypotonia)
01/2016
1
Ataxia (Dyssynergia)
01/2014
1
Microcephaly
01/2014
1
Nervous System Diseases (Neurological Disorders)
01/2014
1
Drug Resistant Epilepsy
01/2014
1
Muscular Dystrophies (Muscular Dystrophy)
11/2011
1
Hydrocephalus (Hydrocephaly)
01/2007
1
Malformations of Cortical Development
01/2007
1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
11/2002
Drug/Important Bio-Agent (IBA)
4
Proteins (Proteins, Gene)
FDA Link
11/2010 - 01/2003
2
Glycoproteins (Glycoprotein)
IBA
01/2016 - 02/2000
2
Glucose (Dextrose)
FDA Link
Generic
01/2014 - 12/2010
2
Oligosaccharides
IBA
11/2010 - 01/2003
2
Dolichols
IBA
11/2010 - 03/2005
2
Polysaccharides (Glycans)
IBA
03/2005 - 01/2003
1
Ketone Bodies
IBA
01/2018
1
3-Hydroxybutyric Acid (beta-Hydroxybutyric Acid)
IBA
01/2018
1
dehydrodolichol
IBA
01/2016
1
Diphosphates (Pyrophosphates)
IBA
01/2016
1
Small Interfering RNA (siRNA)
IBA
01/2016
1
Dystroglycans (Dystroglycan)
IBA
11/2011
1
Guanosine Diphosphate Mannose (GDP Mannose)
IBA
11/2010
1
Lipids
IBA
11/2010
1
Mannosyltransferases
IBA
11/2010
1
DNA (Deoxyribonucleic Acid)
IBA
01/2007
1
Monosaccharides
IBA
01/2003
1
Enzymes
IBA
01/2003
1
Congenital disorder of glycosylation type 1B
IBA
11/2002
Therapy/Procedure
1
Ketogenic Diet
01/2018
1
Therapeutics
01/2018