J-M Saudubray Selected Research

beta-Mannosidosis (beta-Mannosidase Deficiency)

10/2007

Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

J-M Saudubray Research Topics

Disease

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

Drug/Important Bio-Agent (IBA)

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

Therapy/Procedure

1	Pancreatectomy 11/2005