المؤلفون: Roberta Salinas-Marín, Yoshiko Murakami, Carlos Alberto González-Domínguez, Mario Ernesto Cruz-Muñoz, Héctor Manuel Mora-Montes, Eva Morava, Taroh Kinoshita, Susana Monroy-Santoyo, Iván Martínez-Duncker

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: GPI (glycosylphosphatidylinositol), CDG (congenital disorder of glycosylation), exome, PIGA, CD59 antigen, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.971473/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/ae958a3ab8354ab78668866d0b631d0eTest

المؤلفون: Susana Monroy-Santoyo, Leticia Belmont-Martínez, Cynthia Fernández-Lainez

المصدر: Acta Pediátrica de México, Vol 33, Iss 6, Pp 331-334 (2014)

مصطلحات موضوعية: Hiperfenilalaninemia, tetrahidrobiopterina, fenilalanina, sapropterina, fenilcetonuria, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: http://ojs.actapediatrica.org.mx/index.php/APM/article/view/597Test; https://doaj.org/toc/0186-2391Test; https://doaj.org/toc/2395-8235Test

الوصول الحر: https://doaj.org/article/b02a356b478944db82458121b2058922Test

المؤلفون: Cynthia Fernández-Lainez, Isabel Ibarra-González, Leticia Belmont-Martínez, Susana Monroy-Santoyo, Sara Guillén-López, Marcela Vela-Amieva

المصدر: Annals of Hepatology, Vol 13, Iss 2, Pp 265-272 (2014)

مصطلحات موضوعية: Inborn errors of metabolism, Acute liver failure, Liver cirrhosis, Nitisinone, Tyrosine, Specialties of internal medicine, RC581-951

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1665268119308907Test; https://doaj.org/toc/1665-2681Test

الوصول الحر: https://doaj.org/article/ff84bbe3c3fb4c91b84302715976c02eTest

المؤلفون: David J. Kuter, Herbert L. Bonkovsky, Susana Monroy, Gayle Ross, Encarna Guillén-Navarro, Maria Domenica Cappellini, Anna-Elisabeth Minder, Ole Hother-Nielsen, Paolo Ventura, Gang Jia, Marianne T. Sweetser, Manish Thapar

المساهمون: Kuter, David J., Bonkovsky, Herbert L., Monroy, Susana, Ross, Gayle, Guillén-Navarro, Encarna, Cappellini, MARIA DOMENICA, Minder, Anna-Elisabeth, Hother-Nielsen, Ole, Ventura, Paolo, Jia, Gang, Sweetser, Marianne T., Thapar, Manish

مصطلحات موضوعية: acute intermittent porphyria, health-related quality of life, opioid

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37479139; info:eu-repo/semantics/altIdentifier/wos/WOS:001109619300001; volume:79; issue:5; firstpage:1150; lastpage:1158; journal:JOURNAL OF HEPATOLOGY; https://hdl.handle.net/11380/1311507Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85169505493

الإتاحة: https://doi.org/10.1016/j.jhep.2023.06.013Test
https://hdl.handle.net/11380/1311507Test

المؤلفون: Paolo Ventura, Herbert L. Bonkovsky, Laurent Gouya, Paula Aguilera-Peiró, D. Montgomery Bissell, Penelope E. Stein, Manisha Balwani, D. Karl E. Anderson, Charles Parker, David J. Kuter, Susana Monroy, Jeeyoung Oh, Bruce Ritchie, John J. Ko, Zhaowei Hua, Marianne T. Sweetser, Eliane Sardh

المساهمون: Ventura, Paolo, Bonkovsky, Herbert L., Gouya, Laurent, Aguilera-Peiró, Paula, Montgomery Bissell, D., Stein, Penelope E., Balwani, Manisha, Anderson, D. Karl E., Parker, Charle, Kuter, David J., Monroy, Susana, Oh, Jeeyoung, Ritchie, Bruce, Ko, John J., Hua, Zhaowei, Sweetser, Marianne T., Sardh, Eliane

مصطلحات موضوعية: Acute Hepatic Porprhyria, ALA-synthase-1, givosiran, health-related quality of life, RNAi therapeutics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34717041; info:eu-repo/semantics/altIdentifier/wos/WOS:000718809000001; volume:42; firstpage:161; lastpage:172; journal:LIVER INTERNATIONAL; http://hdl.handle.net/11380/1255839Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85119075466

الإتاحة: https://doi.org/10.1111/liv.15090Test
http://hdl.handle.net/11380/1255839Test

المؤلفون: David Cassiman, Raili Kauppinen, Susana Monroy, Ming‐Jen Lee, Herbert L. Bonkovsky, Manish Thapar, Encarna Guillén‐Navarro, Anna‐Elisabeth Minder, Cecilia Hale, Marianne T. Sweetser, Aneta Ivanova

المساهمون: HUS Internal Medicine and Rehabilitation, Clinicum, Department of Medicine, Helsinki University Hospital Area

مصطلحات موضوعية: COMPLICATIONS, QUESTIONNAIRE, Pain, hepatic complications, EORTC QLQ-C30, chronic symptoms, DIAGNOSIS, ACUTE INTERMITTENT PORPHYRIA, prospective studies, RECOMMENDATIONS, Porphyrias, Hepatic, disease burden, QUALITY-OF-LIFE, Porphyria, Acute Intermittent, 3121 General medicine, internal medicine and other clinical medicine, Genetics, Quality of Life, porphyria attack, MANAGEMENT, Humans, Hemin, VALIDITY, Genetics (clinical), ATTACKS, porphyrias

وصف الملف: Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51ba88da64a03ddf281cdff0f121d88dTest
http://hdl.handle.net/10138/354211Test

المؤلفون: D Karl E Anderson, Paula Aguilera-Peiró, Laurent Gouya, David J. Kuter, Charles J. Parker, Zhaowei Hua, Marianne T. Sweetser, Herbert L. Bonkovsky, Penelope E. Stein, Bruce Ritchie, Envision Investigators, Manisha Balwani, John J. Ko, Eliane Sardh, Paolo Ventura, Susana Monroy, D. Montgomery Bissell, Jeeyoung Oh

المصدر: Liver International. 42:161-172

مصطلحات موضوعية: medicine.medical_specialty, Acetylgalactosamine, Pyrrolidines, givosiran, Urinary system, Acute Hepatic Porprhyria, ALA-synthase-1, givosiran, health-related quality of life, RNAi therapeutics, Attack rate, Placebo, chemistry.chemical_compound, Quality of life, Internal medicine, Porphobilinogen, Humans, Medicine, Adverse effect, ALA-synthase-1, Hepatology, business.industry, Acute Hepatic Porprhyria, RNAi therapeutics, Interim analysis, Porphyrias, Hepatic, health-related quality of life, chemistry, Porphyria, Acute Intermittent, Quality of Life, business, Hemin

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6131b0c2b0931beff9480eb23921ff4eTest
https://doi.org/10.1111/liv.15090Test

المؤلفون: Isabel, Ibarra-Gonález, Cynthia, Fernández-Lainez, Diana, Reyes-González, Leticia, Belmont-Martínez, Sara, Guillén-López, Susana, Monroy-Santoyo, Marcela, Vela-Amieva

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2014 2

مصطلحات موضوعية: inborn errors of metabolism, neonatal intensive care unit, neonatal mortality, newborn screening, neonates

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942014000100302Test

المؤلفون: Manish Thapar, Herbert L. Bonkovsky, Susana Monroy, Gayle Ross, Encarna Guillén-Navarro, Maria Domenica Cappellini, Anna-Elisabeth Minder, Shangbin Liu, Marianne T. Sweetser, David Kuter

المصدر: Journal of Hepatology. 77:S60-S61

مصطلحات موضوعية: Hepatology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4d026ade78c869043c783871aaf81eebTest
https://doi.org/10.1016/s0168-8278Test(22)00522-0

المؤلفون: Manish Thapar, Herbert L. Bonkovsky, Susana Monroy, Gayle Ross, Encarna Guillén-Navarro, Maria Domenica Cappellini, Anna-Elisabeth Minder, Shangbin Liu, Marianne T. Sweetser, David J. Kuter

المصدر: Gastroenterology. 162:S-80

مصطلحات موضوعية: Hepatology, Gastroenterology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3d90a07dcc2976494309ae01c3ab35caTest
https://doi.org/10.1016/s0016-5085Test(22)60206-3