J-M Saudubray Selected Research

J-M Saudubray Research Topics

5	Porphyrias (Porphyria) 03/2009 - 04/2006
3	Inborn Urea Cycle Disorders 03/2009 - 04/2006
2	Glycogen Storage Disease (Glycogenosis) 03/2009 - 04/2006
2	Mitochondrial Diseases (Mitochondrial Disease) 03/2009 - 04/2006
2	Lysosomal Storage Diseases (Lysosomal Storage Disease) 06/2008 - 11/2007
2	succinic semialdehyde dehydrogenase deficiency 11/2007 - 10/2007
2	Hepatolenticular Degeneration (Wilson's Disease) 11/2007 - 10/2007
2	Cerebrotendinous Xanthomatosis 10/2007 - 10/2007
1	Lactic Acidosis 12/2011
1	Movement Disorders (Movement Disorder) 06/2008
1	Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy) 11/2007
1	Epilepsy (Aura) 11/2007
1	Lafora Disease 11/2007
1	Fabry Disease (Fabry's Disease) 10/2007
1	Gaucher Disease (Gaucher's Disease) 10/2007
1	Refsum Disease (Refsum's Disease) 10/2007
1	Vitamin E Deficiency 10/2007
1	Pyruvate Dehydrogenase Complex Deficiency Disease 10/2007
1	beta-Mannosidosis (beta-Mannosidase Deficiency) 10/2007
1	Parkinsonian Disorders (Parkinsonism) 12/2006
1	Dyskinesias (Dyskinesia) 12/2006
1	Phenylketonurias (Phenylketonuria) 12/2006
1	Intellectual Disability (Idiocy) 12/2006
1	Homocystinuria 04/2006
1	Propionic Acidemia 04/2006
1	Diabetes Mellitus 11/2005
1	Channelopathies 01/2005
1	Hyperplasia 01/2005
1	Hyperammonemia 01/2005
1	Hyperinsulinism (Hyperinsulinemia) 01/2005
1	Ischemia 03/2004

3	MetalsIBA 03/2009 - 04/2006
3	CreatineIBA 03/2009 - 04/2006
2	Fatty Acids (Saturated Fatty Acids)IBA 03/2009 - 04/2006
2	SugarsIBA 03/2009 - 04/2006
2	Pyruvic Acid (Pyruvate)IBA 03/2009 - 04/2006
2	Ketone BodiesIBA 03/2009 - 04/2006
2	Neurotransmitter Agents (Neurotransmitter)IBA 06/2008 - 10/2007
2	HomocysteineIBA 10/2007 - 10/2007
2	Amino Acids FDA Link 04/2006 - 04/2006
1	Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA 12/2011
1	Facilitative Glucose Transport Proteins (Glucose Transporter)IBA 11/2007
1	Monoamine Oxidase (MAO)IBA 10/2007
1	X-linked Creatine deficiencyIBA 10/2007
1	Urea (Carbamide)FDA LinkGeneric 10/2007
1	Biotin (Vitamin H)FDA Link 10/2007
1	CatecholaminesIBA 12/2006
1	Levodopa (L Dopa)FDA LinkGeneric 12/2006
1	Dopamine Plasma Membrane Transport Proteins (Dopamine Transporter)IBA 12/2006
1	Dihydropteridine Reductase (6,7 Dihydropteridine Reductase)IBA 12/2006
1	Dopamine (Intropin)FDA LinkGeneric 12/2006
1	5-Hydroxytryptophan (5 Hydroxytryptophan)IBA 12/2006
1	Serotonin (5 Hydroxytryptamine)IBA 12/2006
1	Diazoxide (Hyperstat)FDA Link 11/2005
1	Oxidoreductases (Dehydrogenase)IBA 01/2005
1	Insulin ReceptorIBA 01/2005
1	Glutamate DehydrogenaseIBA 01/2005
1	GlucokinaseIBA 01/2005
1	Potassium Channels (Potassium Channel)IBA 01/2005
1	EnzymesIBA 01/2005
1	CreatinineIBA 03/2004

1	Pancreatectomy 11/2005