Who should be eligible for gene therapy clinical trials in red blood cell pyruvate kinase deficiency (PKD)?: Toward an expanded definition of severe PKD

Who should be eligible for gene therapy clinical trials in red blood cell pyruvate kinase deficiency (PKD)?: Toward an expanded definition of severe PKD

Bibliographic Details
Main Authors:	Barcellini, W. (Author), Bianchi, P. (Author), Glader, B. (Author), Grace, R.F (Author), López Lorenzo, J.L (Author), Navarro Ordoñez, S. (Author), Nicoletti, E. (Author), Schwartz, J.D (Author), Segovia, J.C (Author), Sevilla, J. (Author), Shah, A.J (Author), Zanella, A. (Author)
Format:	Article
Language:	English
Published:	John Wiley and Sons Inc 2022
Subjects:	adenosine triphosphate allogeneic hematopoietic stem cell transplantation anemia Anemia, Hemolytic, Congenital Nonspherocytic attitude to illness bilirubin blood transfusion CD34 antigen clinical effectiveness clinical feature clinical trial (topic) Clinical Trials as Topic diagnostic procedure disease burden disease classification disease severity disorders of carboxylic acid metabolism enzymology erythrocyte disorder erythropoietin fatigue follow up gene gene mutation gene therapy Genetic Therapy genetic variability genetics genotype phenotype correlation hemoglobin hemolytic anemia hereditary hemolytic anemia human Humans iron chelation iron overload Letter mitapivat molecular pathology nonsense mutation patient care PKLR gene pyruvate kinase Pyruvate Kinase pyruvate kinase deficiency Pyruvate Metabolism, Inborn Errors reticulocyte risk assessment RNA splice site safety splenectomy survival analysis toxicity testing
Online Access:	View Fulltext in Publisher

Similar Items

Phenotypic and molecular genetic analysis of Pyruvate Kinase deficiency in a Tunisian family
by: Jaouani Mouna, et al.
Published: (2016-07-01)

Erythrocyte Pyruvate Kinase Deficiency mutation identified in multiple breeds of domestic cats
by: Grahn Robert A, et al.
Published: (2012-10-01)

Clinically relevant gene editing in hematopoietic stem cells for the treatment of pyruvate kinase deficiency
by: Sara Fañanas-Baquero, et al.
Published: (2021-09-01)

A Family Affected by a Life-Threatening Erythrocyte Defect Caused by Pyruvate Kinase Deficiency With Normal Iron Status: A Case Report
by: Karolina Maciak, et al.
Published: (2020-10-01)

Severe Presentation of Congenital Hemolytic Anemias in the Neonatal Age: Diagnostic and Therapeutic Issues
by: Valeria Cortesi, et al.
Published: (2021-08-01)

A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report
by: Ahalyaa Sivashangar, et al.
Published: (2021-07-01)

Chronic Neurobehavioral Impairments and Decreased Hippocampal Expression of Genes Important for Brain Glucose Utilization in a Mouse Model of Mild TBI
by: Linda M. Huynh, et al.
Published: (2020-09-01)

Thiamine mimetics sulbutiamine and benfotiamine as a nutraceutical approach to anticancer therapy
by: Hunter C. Jonus, et al.
Published: (2020-01-01)

Preclinical studies of efficacy thresholds and tolerability of a clinically ready lentiviral vector for pyruvate kinase deficiency treatment
by: Susana Navarro, et al.
Published: (2021-09-01)

Non-immune Hemolysis in Gaucher Disease and Review of the Literature Eliyakim Hershkop, Idan Bergman, Alina Kurolap, Najib Dally, and Hagit Baris Feld
by: Eliyakim Hershkop, et al.
Published: (2021-07-01)

Transcriptional and Biochemical Characterization of Cytosolic Pyruvate Kinases in <i>Arabidopsis thaliana</i>
by: Sabine Wulfert, et al.
Published: (2020-03-01)

Autoimmune hemolytic anemia as an initial manifestation of Hodgkin’s Disease: Case report
by: José Augusto Urrego-Díaz, et al.
Published: (2016-07-01)

Pyruvate Dehydrogenase Kinases: Therapeutic Targets for Diabetes and Cancers
by: Nam Ho Jeoung
Published: (2015-06-01)

Conversion of phosphoenolpyruvate to pyruvate in Thermoanaerobacterium saccharolyticum
by: Jingxuan Cui, et al.
Published: (2020-06-01)

Autoimmune Hemolytic Anemia as a Complication of Congenital Anemias. A Case Series and Review of the Literature
by: Irene Motta, et al.
Published: (2021-08-01)

Pyruvate Kinase and Gastric Cancer: A Potential Marker
by: Filipa Macedo, et al.
Published: (2018-06-01)

Hereditary spherocytosis in an 18-month-old boy with pancytopenia: A case report
by: Borhan Moradveisi, et al.
Published: (2013-02-01)

A Proposed Concept for Defective Mitophagy Leading to Late Stage Ineffective Erythropoiesis in Pyruvate Kinase Deficiency
by: Annelies Johanna van Vuren, et al.
Published: (2021-01-01)

Severe drug-induced immune hemolysis due to ceftriaxone
by: Ravi C Dara, et al.
Published: (2020-01-01)

Hemoglobin Willamette (b51 Pro → Arg): case report and literature review
by: Orivaldo Alves Barbosa, et al.
Published: (2017-03-01)

Hereditary hemochromatosis associated with autoimmune hemolytic anemia; A case report
by: Masih Falahatian, et al.
Published: (2019-01-01)

Drug Induced Immune Hemolytic Anemia Caused by Levofloxacin: A Case Report
by: Shashvat Sukhal, et al.
Published: (2014-08-01)

Phosphorylation of the PDH complex precedes HIF-1-mediated effects and PDK1 upregulation during the first hours of hypoxic treatment in HCC cells
by: Zimmer AD, et al.
Published: (2016-08-01)

Natural Antioxidants in Anemia Treatment
by: Coralia Cotoraci, et al.
Published: (2021-02-01)

DISTRIBUTION OF NON-MALIGNANT HEMATOLOGICAL DISORDERS BY SEX, AGE GROUPS AND TYPE OF DISEASE BASED ON BONE MARROW ASPIRATION IN POPULATION OF KHYBER PAKHTUNKHWA, PAKISTAN
by: Mohammad Riazuddin Ghori, et al.
Published: (2019-06-01)

Chronic Granulomatous Disease: a Review of the Infectious and Inflammatory Complications
by: Song, Eunkyung, et al.
Published: (2011)

PKM2, function and expression and regulation
by: Ze Zhang, et al.
Published: (2019-06-01)

Pyruvate kinase M2, but not M1, allele maintains immature metabolic states of murine embryonic stem cells
by: Masamitsu Konno, et al.
Published: (2015-06-01)

Pyruvate Homeostasis as a Determinant of Parasite Growth and Metabolic Plasticity in Toxoplasma gondii
by: Ningbo Xia, et al.
Published: (2019-06-01)

Rituximab Use in Warm and Cold Autoimmune Hemolytic Anemia
by: Irina Murakhovskaya
Published: (2020-12-01)

The unusual abundance of a rare finding!
by: Rahaf Altahan, et al.
Published: (2019-09-01)

Lactate and pyruvate metabolism during hyperthermia in the dog
by: Dunn, Robert Bruce
Published: (2011)

Melatonin Therapy Modulates Cerebral Metabolism and Enhances Remyelination by Increasing PDK4 in a Mouse Model of Multiple Sclerosis
by: Majid Ghareghani, et al.
Published: (2019-02-01)

Hemolytic Anemia as an Outcome of Occupational Exposure to Formalin: A Case Report
by: Zohreh Yazdi, et al.
Published: (2012-08-01)

Pyruvate Kinase, Inflammation and Periodontal Disease
by: Melissa M. Grant
Published: (2021-06-01)

Evolution of pyruvate kinase in the long-term evolution experiment of Escherichia coli: A structure/function study
by: Zhu, Tong
Published: (2010)

The implementation of laboratory investigations for diagnosing pyruvate kinase deficiency at the Johannesburg Hospital
by: Durand, Pierre Marcel
Published: (2008)

An investigation of certain aspects of pyruvate metabolism in man by indirect and direct tolerance tests
by: Lange, Leo Stanley
Published: (2020)

Metabolic Homeostasis in Life as We Know It: Its Origin and Thermodynamic Basis
by: David F. Wilson, et al.
Published: (2021-04-01)

Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family
by: Rashmi Dongerdiye, et al.
Published: (2021-07-01)