المؤلفون: Laróvere, Laura E., Fairbanks, Lynette D., Jinnah, H. A., Guelbert, Norberto B., Escuredo, Emilia, Becerra, Adriana, Kremer, Raquel Dodelson de

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2021 9

مصطلحات موضوعية: Hypoxanthine-guanine phosphoribosyltransferase deficiency, hyperuricemia, Lesch-Nyhan disease, Lesch-Nyhan variant, HPRT1 mutation

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100304

المؤلفون: Balasubramaniam, Gowrie S., Arenas-Hernandez, Monica, Escuredo, Emilia, Fairbanks, Lynette, Marinaki, Tony, Mapplebeck, Sarah, Sheaff, Michael, Almond, Michael K.

المصدر: Clinical Kidney Journal ; volume 9, issue 6, page 800-806 ; ISSN 2048-8505 2048-8513

مصطلحات موضوعية: Transplantation, Nephrology

الاتاحة: http://dx.doi.org/10.1093/ckj/sfw093
http://academic.oup.com/ckj/article-pdf/9/6/800/8511209/sfw093.pdf

المؤلفون: Al‐Jafar, Hassan A., Layton, D. M., Robertson, Lynn, Escuredo, Emilia, Bain, Barbara J.

المصدر: American Journal of Hematology ; volume 88, issue 12, page 1089-1089 ; ISSN 0361-8609 1096-8652

الاتاحة: http://dx.doi.org/10.1002/ajh.23556
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajh.23556
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajh.23556
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajh.23556

المؤلفون: Arenas, Monica, Simpson, Gemma, Lewis, Cathryn M, Shobowale-Bakre, El-Monsor, Escuredo, Emilia, Fairbanks, Lynette D, Duley, John A, Ansari, Azhar, Sanderson, Jeremy D, Marinaki, Anthony M

المصدر: Clinical Chemistry ; volume 51, issue 12, page 2371-2374 ; ISSN 0009-9147 1530-8561

الاتاحة: http://dx.doi.org/10.1373/clinchem.2005.053157
http://academic.oup.com/clinchem/article-pdf/51/12/2371/32684507/clinchem2371.pdf

المؤلفون: Walker, P. L. C., Corrigan, Adele, Arenas, Monica, Escuredo, Emilia, Fairbanks, Lynette, Marinaki, Anthony

المصدر: Nucleosides, Nucleotides and Nucleic Acids ; volume 30, issue 12, page 1243-1247 ; ISSN 1525-7770 1532-2335

الاتاحة: http://dx.doi.org/10.1080/15257770.2011.630852
http://www.tandfonline.com/doi/pdf/10.1080/15257770.2011.630852

المؤلفون: Marinaki, Anthony M, Ansari, Azhar, Duley, John A, Arenas, Monica, Sumi, Satoshi, Lewis, Cathryn M, Shobowale-Bakre, El-Monsor, Escuredo, Emilia, Fairbanks, Lynette D, Sanderson, Jeremy D

المصدر: Pharmacogenetics ; volume 14, issue 3, page 181-187 ; ISSN 0960-314X

الاتاحة: http://dx.doi.org/10.1097/00008571-200403000-00006
https://journals.lww.com/00008571-200403000-00006

المؤلفون: Marinaki, Anthony M, Arenas, Monica, Khan, Zubair H, Lewis, Cathryn M, Shobowale-Bakre, El-Monsor, Escuredo, Emilia, Fairbanks, Lynette D, Mayberry, John F, Wicks, Antony C, Ansari, Azhar, Sanderson, Jeremy, Duley, John A

المصدر: Pharmacogenetics ; volume 13, issue 2, page 97-105 ; ISSN 0960-314X

الاتاحة: http://dx.doi.org/10.1097/00008571-200302000-00006
https://journals.lww.com/00008571-200302000-00006

المؤلفون: Laróvere, Laura Elena, Fairbanks, Lynette D., Jinnah, H. A., Guelbert, Norberto Bernardo, Escuredo, Emilia, Becerra, Adriana Berónica, Dodelson de Kremer, Raquel

مصطلحات موضوعية: Hypoxanthine-guanine phosphoribosyltransferase deficiency, Hyperuricemia, Lesch-Nyhan disease, Lesch-Nyhan variant, https://purl.org/becyt/ford/3.3, https://purl.org/becyt/ford/3

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/url/https://www.scielo.br/j/jiems/a/bJKcpfbPCzLKSNMCqcHBGqD/?lang=en; http://hdl.handle.net/11336/150718; Laróvere, Laura Elena; Fairbanks, Lynette D.; Jinnah, H. A.; Guelbert, Norberto Bernardo; Escuredo, Emilia; et al.; Lesch-Nyhan disease and its variants: Phenotypic and mutation spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase deficiency in Argentine patients; Scielo; Journal of Inborn Errors of Metabolism and Screening; 3-2021; CONICET Digital; CONICET

الاتاحة: http://hdl.handle.net/11336/150718

المؤلفون: Marinaki, Anthony M., Escuredo, Emilia, Duley, John A., Simmonds, H. Anne, Amici, Adolfo, Naponelli, Valeria, Magni, Giulio, Seip, Martin, Ben-Bassat, Isaac, Harley, Eric H., Thein, Swee Lay, Rees, David C.

المصدر: Blood; June 2001, Vol. 97 Issue: 11 p3327-3332, 6p

المؤلفون: Arenas, Monica, Marinaki, Tony, Simpson, Gemma, Lewis, Cathryn, Shobowale–Bakre, El-Monsor, Escuredo, Emilia, Fairbanks, Lynette, Duley, John, Sanderson, Jeremy

المصدر: Gastroenterology (00165085); Sep2005, Vol. 129 Issue 3, p1104-1104, 1p