Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Emilia Escuredo"'
Autor:
Laura E. Laróvere, Lynette D. Fairbanks, H. A. Jinnah, Norberto B. Guelbert, Emilia Escuredo, Adriana Becerra, Raquel Dodelson de Kremer
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Abstract Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a disorder of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its variants, HPRT-related hyperuricemia with neurologic dysfunction (HND) and HPRT-related hyp
Externí odkaz:
https://doaj.org/article/ff16c313e79a4724aba91300ea38e186
Autor:
Adriana Becerra, Lynette D. Fairbanks, Norberto Guelbert, Emilia Escuredo, Hyder A. Jinnah, Raquel Dodelson de Kremer, Laura E. Laróvere
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20200027, Published: 17 MAR 2021
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20200027, Published: 17 MAR 2021
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a disorder of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its variants, HPRT-related hyperuricemia with neurologic dysfunction (HND) and HPRT-related hyperuricemi
Autor:
Tony Marinaki, Emilia Escuredo, Sarah Mapplebeck, Michael Almond, Gowrie Balasubramaniam, Lynette D. Fairbanks, Monica Arenas-Hernandez, Michael Sheaff
Publikováno v:
Clinical Kidney Journal
Background Adenine phosphoribosyltransferase deficiency is an inborn error of metabolism that can cause kidney disease from crystalline nephropathy or kidney stones. Methods We present three cases from a single centre with varied presentations to ill
Publikováno v:
Nucleosides, Nucleotides and Nucleic Acids. 30:1260-1265
Hypoxanthine phosphoribosyltranferase (HPRT) deficiency is an X-linked disorder of purine salvage that ranges phenotypically from hyperuricaemia to Lesch-Nyhan Syndrome. Molecular testing is necessary to identify female carriers within families as a
Autor:
Jeremy D. Sanderson, Lynette D. Fairbanks, Cathryn M. Lewis, Satoshi Sumi, John A. Duley, Anthony M. Marinaki, M Arenas, Emilia Escuredo, Azhar Ansari, El-Monsor Shobowale-Bakre
Publikováno v:
Pharmacogenetics. 14:181-187
Adverse drug reactions to azathioprine (AZA), the pro-drug of 6-mercaptopurine (6-MP), occur in 15% to 28% of patients and the majority are not explained by thiopurine methyltransferase (TPMT) deficiency. Inosine triphosphate pyrophosphatase (ITPase)
Autor:
M Arenas, Emilia Escuredo, Antony C Wicks, Anthony M. Marinaki, Cathryn M. Lewis, John A. Duley, Azhar Ansari, El-Monsor Shobowale-Bakre, J. Sanderson, Zubair H. Khan, Lynette D. Fairbanks, John F. Mayberry
Publikováno v:
Pharmacogenetics. 13:97-105
Objective Polymorphisms in the TPMT gene open reading frame (ORF) are associated with reduced TPMT activity. Variable number tandem repeats (VNTR*3 to VNTR*9) in the promoter region of the gene consisting of combinations of Type A, B and C repeat uni
Autor:
Anthony M. Marinaki, Lynette D. Fairbanks, P. L. C. Walker, Monica Arenas, A. Corrigan, Emilia Escuredo
Publikováno v:
Nucleosides, nucleotidesnucleic acids. 30(12)
Purine nucleoside phosphorylase (PNPase) deficiency is an autosomal recessive disorder affecting purine degradation and salvage pathways. Clinically, patients typically present with severe immunodeficiency, neurological dysfunction, and autoimmunity.
Autor:
Anthony M. Marinaki, K. Vijayakumar, L. Carr, Emilia Escuredo, M. Arenas, Lynette D. Fairbanks
Publikováno v:
Journal of inherited metabolic disease. 32(4)
Molybdenum cofactor deficiency (MOCOD) is a rare inherited metabolic disorder resulting in the combined deficiency of aldehyde oxidase (AO, EC 1.2.3.1), xanthine dehydrogenase (XDH, EC 1.1.1.204), and sulfite oxidase (SUOX, EC 1.8.3.1). The majority
Autor:
El-Monsor Shobowale-Bakre, John A. Duley, Azhar Ansari, Jeremy D. Sanderson, Lynette D. Fairbanks, Cathryn M. Lewis, Emilia Escuredo, Anthony M. Marinaki, Gemma Simpson, M Arenas
Publikováno v:
Clinical chemistry. 51(12)
The immunosuppressive drug 6-mercaptopurine (6-MP) and its prodrug azathioprine are used in the treatment of inflammatory bowel disease and other disorders of immune regulation (1). Thiopurine methyltransferase (TPMT) inactivates 6-MP by methylation.
Publikováno v:
ChemInform. 36
We have previously described a family in which the interaction between pyrimidine 5' nucleotidase I (P5N-I) deficiency and hemoglobin E resulted in severe haemolytic anaemia. In this study we explored the genetic basis of the severe clinical phenotyp