Patricia Aguilar-Martinez Selected Research

hereditary Hyperferritinemia with congenital cataracts

4/2013	Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype.
5/2005	The evaluation of hyperferritinemia: an updated strategy based on advances in detecting genetic abnormalities.

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Patricia Aguilar-Martinez Research Topics

Disease

8	Iron Overload 01/2022 - 10/2004
6	Hemochromatosis (Bronze Diabetes) 01/2016 - 11/2003
3	Anemia 01/2020 - 11/2011
3	Hyperferritinemia 01/2019 - 05/2005
2	Hypoxia (Hypoxemia) 12/2022 - 02/2017
2	Polycythemia (Erythrocytosis) 12/2022 - 02/2017
2	hereditary Xerocytosis 01/2019 - 10/2018
2	Hemolysis 01/2019 - 10/2018
2	Hemolytic Anemia 02/2017 - 11/2011
2	hereditary Hyperferritinemia with congenital cataracts 04/2013 - 05/2005
2	Porphyria Cutanea Tarda 01/2011 - 01/2004
2	beta-Thalassemia (Cooley's Anemia) 07/2010 - 12/2007
2	type 2 Hemochromatosis 12/2007 - 09/2007
1	Metabolic Syndrome (Dysmetabolic Syndrome X) 01/2022
1	Rare Diseases (Rare Disease) 01/2022
1	Hypertension (High Blood Pressure) 01/2022
1	Pancytopenia 01/2020
1	Channelopathies 01/2019
1	Thrombosis (Thrombus) 01/2019
1	Edema (Dropsy) 01/2019
1	Neoplasms (Cancer) 02/2017
1	Inflammation (Inflammations) 02/2017
1	Iron-Refractory Iron Deficiency Anemia 09/2012
1	Neurologic Manifestations (Neurological Manifestations) 11/2011
1	Cataract (Cataracts) 11/2011
1	Movement Disorders (Movement Disorder) 11/2011
1	Intellectual Disability (Idiocy) 11/2011
1	Pseudohyperkalemia Cardiff 11/2011
1	Seizures (Absence Seizure) 11/2011
1	Hemoglobinopathies 07/2010
1	type 4 Hemochromatosis 09/2007
1	Factor VII Deficiency (Hypoproconvertinemia) 02/2003
1	Epistaxis (Nosebleed) 04/2002
1	Hemorrhage 04/2002
1	Hemorrhagic Disorders (Hemorrhagic Diathesis) 03/2002

Drug/Important Bio-Agent (IBA)

7	IronIBA 01/2022 - 10/2004
6	HepcidinsIBA 02/2017 - 10/2004
4	metal transporting protein 1 (ferroportin)IBA 01/2022 - 05/2005
4	Biological ProductsIBA 01/2019 - 04/2002
4	Transferrin (beta 2 Transferrin)IBA 01/2016 - 09/2007
3	Ferritins (Ferritin)IBA 01/2022 - 11/2003
3	Transferrin Receptors (Transferrin Receptor)IBA 07/2013 - 09/2007
2	beta-Globins (beta Globin)IBA 12/2022 - 12/2007
2	Hemoglobins (Hemoglobin)IBA 12/2022 - 02/2017
2	Oxygen (Dioxygen)IBA 12/2022 - 02/2017
2	Peptides (Polypeptides)IBA 02/2017 - 12/2007
2	5' Untranslated Regions (5' UTR)IBA 04/2013 - 12/2007
2	ApoferritinsIBA 04/2013 - 05/2005
2	CationsIBA 11/2011 - 07/2010
2	factor VII clotting antigenIBA 04/2002 - 03/2002
1	Glycated Hemoglobin (Glycosylated Hemoglobin)IBA 12/2022
1	Bone Morphogenetic Protein 6IBA 01/2016
1	Dietary IronIBA 01/2016
1	LigandsIBA 01/2016
1	matriptase 2IBA 09/2012
1	Monovalent CationsIBA 11/2011
1	Facilitative Glucose Transport Proteins (Glucose Transporter)IBA 11/2011
1	Antimicrobial PeptidesIBA 12/2007
1	Ceruloplasmin (Ferroxidase)IBA 05/2005
1	Cytochrome P-450 CYP1A2 (CYP1A2)IBA 01/2004
1	Nonsense Codon (Nonsense Mutation)IBA 02/2003
1	Factor VII (Proconvertin)IBA 04/2002

Therapy/Procedure

2	Therapeutics 11/2003 - 04/2002
1	Blood Transfusion (Blood Transfusions) 01/2020
1	Splenectomy 01/2019
1	Minor Surgical Procedures (Minor Surgery) 04/2002