Isabel Tavares de Almeida Selected Research

Cystathionine beta-Synthase (Serine Sulfhydrase)

1/2017

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

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Isabel Tavares de Almeida Research Topics

Disease

2	Galactosemias (Galactosemia) 01/2015 - 01/2014
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2015 - 05/2006
1	Thromboembolism 01/2017
1	Homocystinuria 01/2017
1	Liver Failure 05/2014
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 06/2013
1	Hyperammonemia 08/2011
1	VLCAD deficiency 09/2010
1	Phenylketonurias (Phenylketonuria) 09/2010
1	Weight Gain 03/2010
1	Hyperhomocysteinemia 10/2005

Drug/Important Bio-Agent (IBA)

2	HomocysteineIBA 01/2017 - 10/2005
2	galactose-1-phosphateIBA 01/2015 - 01/2014
2	Valproic Acid (Depakote)FDA LinkGeneric 05/2014 - 08/2011
2	EnzymesIBA 06/2013 - 03/2010
2	Coenzyme A (CoA)IBA 08/2011 - 03/2010
1	CystathionineIBA 01/2017
1	Cystathionine beta-Synthase (Serine Sulfhydrase)IBA 01/2017
1	Methionine (L-Methionine)FDA Link 01/2017
1	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2017
1	Galactose (Galactopyranose)FDA LinkGeneric 01/2015
1	Arginine (L-Arginine)FDA Link 01/2015
1	Mitochondrial DNA (mtDNA)IBA 05/2014
1	valproyl-coenzyme AIBA 08/2011
1	N-acetylglutamic acidIBA 08/2011
1	Urea (Carbamide)FDA LinkGeneric 08/2011
1	Amino-Acid N-Acetyltransferase (N-Acetylglutamate Synthase)IBA 08/2011
1	AmmoniaIBA 08/2011
1	Amino Acids FDA Link 09/2010
1	Mitochondrial Trifunctional ProteinIBA 09/2010
1	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 09/2010
1	hydralazine 4-anisaldehyde hydrazoneIBA 09/2010
1	2- cyclohexylidenhydrazo- 4- phenyl- thiazoleIBA 03/2010
1	Fatty Acids (Saturated Fatty Acids)IBA 03/2010
1	Proteins (Proteins, Gene)FDA Link 05/2006
1	S-AdenosylhomocysteineIBA 10/2005
1	HydrolasesIBA 10/2005

Therapy/Procedure

3	Therapeutics 05/2014 - 03/2010