Mercedes Martínez-Pardo Selected Research

Congenital disorder of glycosylation type II

1/2019	Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
5/2013	A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.

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!

Mercedes Martínez-Pardo Research Topics

Disease

2	Propionic Acidemia 01/2021 - 01/2021
2	Congenital disorder of glycosylation type II 01/2019 - 05/2013
2	Congenital Disorders of Glycosylation 01/2019 - 05/2013
2	Maple Syrup Urine Disease 11/2014 - 02/2013
1	Anemia 01/2021
1	Hypertriglyceridemia 08/2018
1	Liver Failure 11/2014
1	Diseases Newborn Infant 11/2014
1	Epilepsy (Aura) 11/2014
1	Glycogen Storage Disease (Glycogenosis) 05/2013
1	Inborn Genetic Diseases (Disease, Hereditary) 05/2013
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 05/2013
1	Hepatocellular Carcinoma (Hepatoma) 05/2007
1	Phenylketonurias (Phenylketonuria) 05/2007
1	Homocystinuria 01/2006

Drug/Important Bio-Agent (IBA)

2	Proteins (Proteins, Gene)FDA Link 01/2021 - 05/2007
2	Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)IBA 01/2021 - 01/2021
2	Polysaccharides (Glycans)IBA 01/2019 - 05/2013
1	Amino Acids FDA Link 01/2021
1	Branched-Chain Amino AcidsIBA 01/2021
1	Ferritins (Ferritin)IBA 01/2021
1	Hemoglobins (Hemoglobin)IBA 01/2021
1	phosphomannomutaseIBA 01/2019
1	Protein Isoforms (Isoforms)IBA 01/2019
1	Transferrin (beta 2 Transferrin)IBA 01/2019
1	GlycolipidsIBA 01/2019
1	Glycoproteins (Glycoprotein)IBA 01/2019
1	HyperglycerolemiaIBA 08/2018
1	AmmoniaIBA 11/2014
1	Glucose-6-PhosphateIBA 05/2013
1	PhosphoglucomutaseIBA 05/2013
1	GlycoconjugatesIBA 05/2013
1	glucose-1-phosphateIBA 05/2013
1	Oxidoreductases (Dehydrogenase)IBA 02/2013
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 02/2013
1	AcidsIBA 02/2013
1	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 05/2007
1	sapropterin (tetrahydrobiopterin)FDA Link 05/2007
1	Phenylalanine (L-Phenylalanine)FDA Link 05/2007
1	EpitopesIBA 05/2007
1	Cystathionine beta-Synthase (Serine Sulfhydrase)IBA 01/2006

Therapy/Procedure

1	Blood Transfusion (Blood Transfusions) 01/2021
1	Transplantation 11/2014
1	Liver Transplantation 11/2014