Paola Bianchi Selected Research

Pyruvate Kinase

1/2020	Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
1/2020	Molecular heterogeneity of pyruvate kinase deficiency.
10/2018	A Case With Pyruvate Kinase Deficiency Remarkably Sensitive to Heat.
1/2018	Use of Laser Assisted Optical Rotational Cell Analyzer (LoRRca MaxSis) in the Diagnosis of RBC Membrane Disorders, Enzyme Defects, and Congenital Dyserythropoietic Anemias: A Monocentric Study on 202 Patients.
1/2018	Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.
1/2013	A case of hereditary spherocytosis misdiagnosed as pyruvate kinase deficient hemolytic anemia.
10/2011	Six children with pyruvate kinase deficiency from one small town: molecular characterization of the PK-LR gene.
7/2007	Pyruvate kinase deficiency: the genotype-phenotype association.
7/2005	Red cell pyruvate kinase deficiency: molecular and clinical aspects.
6/2005	Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.

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Paola Bianchi Research Topics

Disease

21	Hemolytic Anemia 01/2020 - 06/2002
16	Pyruvate Kinase Deficiency of Red Cells 01/2020 - 06/2005
8	Anemia 01/2021 - 06/2002
8	Congenital Hemolytic Anemia (Hemolytic Anemia, Congenital) 01/2020 - 09/2006
7	Iron Overload 01/2020 - 03/2009
6	Hereditary Spherocytosis 01/2022 - 04/2012
5	Hemolysis 01/2021 - 04/2005
4	Congenital Dyserythropoietic Anemia (Dyserythropoietic Anemia, Congenital) 01/2020 - 09/2009
3	Channelopathies 01/2022 - 01/2021
3	Autoimmune Diseases (Autoimmune Disease) 01/2021 - 10/2019
3	Fibrosis (Cirrhosis) 01/2021 - 11/2013
2	Methemoglobinemia 12/2021 - 07/2008
2	Autoimmune Hemolytic Anemia (Cold Agglutinin Disease) 01/2021 - 12/2015
2	Systemic Lupus Erythematosus (Libman-Sacks Disease) 01/2021 - 10/2019
2	Acquired Immunodeficiency Syndrome (AIDS) 10/2019 - 10/2019
2	Intellectual Disability (Idiocy) 01/2019 - 08/2007
2	Primary Myelofibrosis (Myelosclerosis) 01/2018 - 11/2013
2	Aplastic Anemia (Anemia, Hypoplastic) 09/2004 - 06/2004
1	Infections 01/2022
1	Thrombosis (Thrombus) 01/2022
1	Bacterial Vaginosis 07/2021
1	Dysbiosis 07/2021
1	Rare Diseases (Rare Disease) 01/2021
1	Multiple Myeloma 01/2021
1	Uterine Hemorrhage (Uterine Bleeding) 01/2021
1	Rheumatoid Arthritis 01/2021
1	Evans Syndrome 01/2021
1	Idiopathic Thrombocytopenic Purpura (Thrombocytopenic Purpura, Autoimmune) 01/2021
1	Pain (Aches) 01/2020
1	Pulmonary Hypertension 01/2020
1	Hyperferritinemia 01/2020
1	X-linked sideroblastic anemia 01/2020
1	Liver Failure 01/2020
1	Multiple Sclerosis 10/2019
1	Antiphospholipid Syndrome (Antiphospholipid Antibody Syndrome) 10/2019
1	Disease Progression 10/2019
1	Neurologic Manifestations (Neurological Manifestations) 01/2019
1	Seizures (Absence Seizure) 01/2019
1	Langerhans-Cell Histiocytosis (Histiocytosis, Langerhans Cell) 01/2018
1	Neoplasms (Cancer) 01/2018
1	Gallstones (Gallstone) 01/2018
1	Congenital Nonspherocytic Hemolytic Anemia (Anemia, Hemolytic Congenital, Nonspherocytic) 01/2018
1	Fetal Distress 03/2017

Drug/Important Bio-Agent (IBA)

13	EnzymesIBA 01/2021 - 04/2005
10	Pyruvate KinaseIBA 01/2020 - 06/2005
6	Proteins (Proteins, Gene)FDA Link 01/2020 - 04/2005
6	5'-Nucleotidase (5' Nucleotidase)IBA 01/2018 - 09/2003
5	IronIBA 12/2021 - 03/2009
4	Hemoglobins (Hemoglobin)IBA 12/2021 - 12/2015
4	Membrane Proteins (Integral Membrane Proteins)IBA 01/2020 - 09/2009
3	Hormones (Hormone)IBA 01/2021 - 10/2016
3	HepcidinsIBA 01/2020 - 03/2009
3	NucleotidesIBA 11/2019 - 04/2006
3	CytokinesIBA 01/2019 - 06/2004
2	Ion Channels (Ion Channel)IBA 01/2022 - 01/2021
2	AutoantibodiesIBA 01/2021 - 01/2020
2	SpectrinIBA 01/2020 - 01/2013
2	Ferritins (Ferritin)IBA 01/2020 - 01/2019
2	Progestins (Progestagens)IBA 10/2019 - 10/2019
2	Triose-Phosphate Isomerase (Triosephosphate Isomerase)IBA 01/2019 - 08/2010
2	IsoenzymesIBA 08/2007 - 06/2002
2	Adenylate KinaseIBA 08/2007 - 09/2004
2	Pyrimidine NucleotidesIBA 04/2006 - 09/2003
1	MethemoglobinIBA 12/2021
1	Reticulin (Reticular Fiber)IBA 01/2021
1	daratumumabIBA 01/2021
1	voltage-dependent calcium channel (P-Q type)IBA 01/2021
1	Glycoproteins (Glycoprotein)IBA 01/2021
1	Complement System Proteins (Complement)IBA 01/2021
1	Monoclonal AntibodiesIBA 01/2021
1	senicapocIBA 01/2021
1	SmokeIBA 01/2021
1	Pharmaceutical PreparationsIBA 01/2020
1	Adenosine Triphosphate (ATP)IBA 01/2020
1	Oxygen (Dioxygen)IBA 01/2020
1	Pyruvic Acid (Pyruvate)IBA 01/2020
1	2,3-Diphosphoglycerate (2,3 Bisphosphoglycerate)IBA 01/2020
1	pyrimidineIBA 11/2019
1	AutoantigensIBA 10/2019
1	Progesterone FDA LinkGeneric 10/2019
1	Estrogens (Estrogen)FDA Link 10/2019
1	AndrogensIBA 10/2019
1	SteroidsIBA 10/2019
1	Contraceptive Agents (Contraceptives)IBA 10/2019
1	Combined Oral ContraceptivesIBA 10/2019
1	Transferrin (beta 2 Transferrin)IBA 01/2019
1	Janus Kinase 2IBA 01/2018
1	Glucose-6-Phosphate Isomerase (Phosphoglucose Isomerase)IBA 01/2018
1	ruxolitinibIBA 01/2018
1	Indicators and Reagents (Reagents)IBA 03/2017
1	Levonorgestrel (Plan B)FDA LinkGeneric 10/2016
1	Oral ContraceptivesIBA 10/2016
1	Gonadotropin-Releasing Hormone (GnRH)FDA Link 10/2016

Therapy/Procedure

5	Splenectomy 01/2022 - 01/2017
3	Therapeutics 01/2021 - 10/2016
2	Contraception (Birth Control) 07/2021 - 10/2019
2	Precision Medicine 01/2020 - 01/2020
2	Blood Transfusion (Blood Transfusions) 09/2004 - 09/2004
1	Stem Cell Transplantation 01/2018
1	Lasers (Laser) 01/2018