S Vuillaumier-Barrot Selected Research

Penis agenesis

1/2016

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.

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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 LinkGeneric 01/2014 - 12/2010
2	OligosaccharidesIBA 11/2010 - 01/2003
2	DolicholsIBA 11/2010 - 03/2005
2	Polysaccharides (Glycans)IBA 03/2005 - 01/2003
1	Ketone BodiesIBA 01/2018
1	3-Hydroxybutyric Acid (beta-Hydroxybutyric Acid)IBA 01/2018
1	dehydrodolicholIBA 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	LipidsIBA 11/2010
1	MannosyltransferasesIBA 11/2010
1	DNA (Deoxyribonucleic Acid)IBA 01/2007
1	MonosaccharidesIBA 01/2003
1	EnzymesIBA 01/2003
1	Congenital disorder of glycosylation type 1BIBA 11/2002

Therapy/Procedure

1	Ketogenic Diet 01/2018
1	Therapeutics 01/2018