Elisa Fermo Selected Research

Hemolytic Anemia

1/2020	Molecular heterogeneity of pyruvate kinase deficiency.
11/2019	A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the NT5C3 Gene Associated With Pyrimidine-5'-Nucleotidase Deficiency: A Case Report.
1/2019	Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.
1/2019	Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo.
1/2019	Iron overload in congenital haemolytic anaemias: role of hepcidin and cytokines and predictive value of ferritin and transferrin saturation.
1/2013	A case of hereditary spherocytosis misdiagnosed as pyruvate kinase deficient hemolytic anemia.
8/2012	A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization.
8/2010	Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene.
5/2008	Molecular basis of pyrimidine 5'-nucleotidase deficiency caused by 3 newly identified missense mutations (c.187T>C, c.469G>C and c.740T>C) and a tabulation of known mutations.
8/2007	Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia.

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Elisa Fermo Research Topics

Disease

19	Hemolytic Anemia 01/2020 - 09/2003
13	Pyruvate Kinase Deficiency of Red Cells 01/2020 - 06/2005
8	Congenital Hemolytic Anemia (Hemolytic Anemia, Congenital) 01/2020 - 09/2006
7	Hereditary Spherocytosis 01/2022 - 09/2008
7	Anemia 01/2021 - 09/2004
6	Iron Overload 01/2020 - 01/2017
5	Hemolysis 11/2016 - 04/2005
4	Congenital Dyserythropoietic Anemia (Dyserythropoietic Anemia, Congenital) 01/2020 - 09/2009
3	Primary Myelofibrosis (Myelosclerosis) 10/2015 - 11/2010
2	Thrombosis (Thrombus) 01/2022 - 12/2016
2	Methemoglobinemia 12/2021 - 07/2008
2	Fibrosis (Cirrhosis) 01/2021 - 11/2013
2	Channelopathies 01/2021 - 01/2021
2	Intellectual Disability (Idiocy) 01/2019 - 08/2007
2	Neoplasms (Cancer) 09/2017 - 12/2016
2	Myeloproliferative Disorders (Myeloproliferative Disorder) 11/2010 - 12/2007
2	Paroxysmal Hemoglobinuria (Paroxysmal Nocturnal Hemoglobinuria) 11/2007 - 06/2004
2	Aplastic Anemia (Anemia, Hypoplastic) 09/2004 - 06/2004
1	Infections 01/2022
1	Rare Diseases (Rare Disease) 01/2021
1	Pulmonary Hypertension 01/2020
1	Liver Failure 01/2020
1	Hyperferritinemia 01/2020
1	X-linked sideroblastic anemia 01/2020
1	Seizures (Absence Seizure) 01/2019
1	Neurologic Manifestations (Neurological Manifestations) 01/2019
1	Gallstones (Gallstone) 01/2018
1	Congenital Nonspherocytic Hemolytic Anemia (Anemia, Hemolytic Congenital, Nonspherocytic) 01/2018
1	Hypercholesterolemia 09/2017
1	Essential Thrombocythemia 09/2017
1	Dyslipidemias (Dyslipidemia) 09/2017
1	Autoimmune Hemolytic Anemia (Cold Agglutinin Disease) 12/2015
1	Reticulocytosis 12/2015
1	Phosphoglycerate Kinase 1 Deficiency 08/2012
1	Polycythemia Vera 11/2010
1	Disease Progression 11/2010
1	Hyperhomocysteinemia 11/2010
1	Chronic Myelomonocytic Leukemia (Leukemia, Chronic Myelomonocytic) 04/2010
1	Mevalonate Kinase Deficiency 04/2010
1	Philadelphia Chromosome 12/2007

Drug/Important Bio-Agent (IBA)

13	EnzymesIBA 01/2021 - 04/2005
10	Pyruvate KinaseIBA 01/2020 - 06/2005
7	5'-Nucleotidase (5' Nucleotidase)IBA 01/2018 - 09/2003
6	Proteins (Proteins, Gene)FDA Link 01/2020 - 04/2005
5	Hemoglobins (Hemoglobin)IBA 12/2021 - 09/2008
5	Membrane Proteins (Integral Membrane Proteins)IBA 01/2020 - 09/2008
4	IronIBA 12/2021 - 01/2017
4	NucleotidesIBA 11/2019 - 04/2006
4	CytokinesIBA 01/2019 - 06/2004
3	SpectrinIBA 01/2020 - 09/2008
2	HepcidinsIBA 01/2020 - 01/2019
2	Ferritins (Ferritin)IBA 01/2020 - 01/2019
2	Triose-Phosphate Isomerase (Triosephosphate Isomerase)IBA 01/2019 - 08/2010
2	AntioxidantsIBA 09/2017 - 11/2010
2	Reactive Oxygen Species (Oxygen Radicals)IBA 09/2017 - 11/2010
2	Oxidoreductases (Dehydrogenase)IBA 07/2008 - 02/2006
2	Adenylate KinaseIBA 08/2007 - 09/2004
2	Pyrimidine NucleotidesIBA 04/2006 - 09/2003
1	MethemoglobinIBA 12/2021
1	voltage-dependent calcium channel (P-Q type)IBA 01/2021
1	Reticulin (Reticular Fiber)IBA 01/2021
1	senicapocIBA 01/2021
1	Ion Channels (Ion Channel)IBA 01/2021
1	AutoantibodiesIBA 01/2020
1	pyrimidineIBA 11/2019
1	Transferrin (beta 2 Transferrin)IBA 01/2019
1	Glucose-6-Phosphate Isomerase (Phosphoglucose Isomerase)IBA 01/2018
1	C-Reactive ProteinIBA 09/2017
1	Glutathione (Reduced Glutathione)IBA 09/2017
1	Aspirin (Acetylsalicylic Acid)FDA LinkGeneric 09/2017
1	Hemostatics (Antihemorrhagics)IBA 12/2016
1	IntegrinsIBA 12/2016
1	AnkyrinsIBA 01/2016
1	Immunoglobulin G (IgG)IBA 12/2015
1	AntibodiesIBA 12/2015
1	MitogensIBA 12/2015
1	ruxolitinibIBA 10/2015
1	Protein Isoforms (Isoforms)IBA 11/2013
1	Glycerol (Glycerine)FDA LinkGeneric 04/2012
1	Folic Acid (Vitamin M)FDA LinkGeneric 11/2010
1	HomocysteineIBA 11/2010
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 11/2010
1	Biological ProductsIBA 04/2010
1	Adrenal Cortex Hormones (Corticosteroids)IBA 04/2010
1	Colchicine FDA LinkGeneric 04/2010
1	mevalonate kinaseIBA 04/2010
1	polyacrylamideIBA 09/2008
1	BilirubinIBA 09/2008
1	SodiumIBA 09/2008
1	Cytochromes b5 (Cytochrome b5)IBA 07/2008
1	Cytochrome-B(5) Reductase (Methemoglobin Reductase)IBA 07/2008
1	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 12/2007
1	IsoenzymesIBA 08/2007

Therapy/Procedure

6	Splenectomy 01/2022 - 09/2008
2	Blood Transfusion (Blood Transfusions) 09/2004 - 09/2004
1	Precision Medicine 01/2020
1	Lasers (Laser) 01/2018
1	Therapeutics 09/2017
1	Drug Therapy (Chemotherapy) 09/2017
1	Bone Marrow Transplantation (Transplantation, Bone Marrow) 11/2007