Isabel Rivera Selected Research

galactose-1-phosphate

1/2018	Molecular basis and clinical presentation of classic galactosemia in a Croatian population.
1/2017	Sweet and sour: an update on classic galactosemia.
1/2015	Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model.
1/2014	A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.

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Isabel Rivera Research Topics

Disease

6	Galactosemias (Galactosemia) 01/2018 - 01/2014
2	Pyruvate Dehydrogenase Complex Deficiency Disease 05/2015 - 01/2009
2	Inborn Genetic Diseases (Disease, Hereditary) 04/2015 - 01/2015
2	Homocystinuria 03/2014 - 06/2012
2	Hyperhomocysteinemia 06/2012 - 10/2005
1	Aneuploidy (Aneuploid) 11/2019
1	Infections 03/2016
1	Mitochondrial Diseases (Mitochondrial Disease) 05/2015
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 04/2015
1	Cardiovascular Diseases (Cardiovascular Disease) 06/2012
1	Malnutrition (Nutritional Deficiencies) 01/2011
1	Phenylketonurias (Phenylketonuria) 01/2011
1	Alzheimer Disease (Alzheimer's Disease) 01/2010
1	Stomach Neoplasms (Stomach Cancer) 11/2007
1	Vascular Diseases (Vascular Disease) 08/2003

Drug/Important Bio-Agent (IBA)

4	galactose-1-phosphateIBA 01/2018 - 01/2014
3	Galactose (Galactopyranose)FDA LinkGeneric 01/2018 - 01/2015
3	HomocysteineIBA 06/2012 - 08/2003
2	S-Adenosylmethionine (Ademetionine)IBA 03/2014 - 08/2003
2	S-AdenosylhomocysteineIBA 10/2005 - 08/2003
1	LipidsIBA 11/2019
1	EnzymesIBA 01/2017
1	Glucose (Dextrose)FDA LinkGeneric 05/2015
1	Pyruvic Acid (Pyruvate)IBA 05/2015
1	OligonucleotidesIBA 04/2015
1	locked nucleic acidIBA 04/2015
1	Arginine (L-Arginine)FDA Link 01/2015
1	Protein AggregatesIBA 11/2014
1	Cystathionine beta-Synthase (Serine Sulfhydrase)IBA 03/2014
1	N,N-dimethylarginine (asymmetric dimethylarginine)IBA 06/2012
1	CystathionineIBA 06/2012
1	Nitric Oxide (Nitrogen Monoxide)FDA Link 06/2012
1	Nitric Oxide Synthase (NO Synthase)IBA 06/2012
1	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2011
1	Cholesterol 24-Hydroxylase (CYP46A1)IBA 01/2010
1	Amino Acids FDA Link 01/2009
1	HydrolasesIBA 10/2005
1	DNA (Deoxyribonucleic Acid)IBA 08/2003

Therapy/Procedure

3	Therapeutics 03/2016 - 01/2011
1	Ketogenic Diet 05/2015
1	Gastrectomy 11/2007