Zobrazeno 1 - 10
of 296
pro vyhledávání: '"Orotic Aciduria"'
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Orna Staretz-Chacham, Nadirah S. Damseh, Suha Daas, Nasser Abu Salah, Yair Anikster, Ortal Barel, Elena Dumin, Aviva Fattal-Valevski, Tzipora C. Falik-Zaccai, Eli Hershkovitz, Sagi Josefsberg, Yuval Landau, Tally Lerman-Sagie, Hanna Mandel, Rachel Rock, Nira Rostami, Talya Saraf-Levy, Nava Shaul Lotan, Ronen Spiegel, Galit Tal, Igor Ulanovsky, Yael Wilnai, Stanley H. Korman, Shlomo Almashanu
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Hereditary orotic aciduria is an extremely rare, autosomal recessive disease caused by deficiency of uridine monophosphate synthase. Untreated, affected individuals may develop refractory megaloblastic anemia, neurodevelopmental disabil
Externí odkaz:
https://doaj.org/article/a4eeec32a8884c4395e424f817425fe1
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
BackgroundHereditary orotic aciduria (HOA) is a rare genetic disorder of pyrimidine metabolism caused by variations in the uridine monophosphate synthetase (UMPS) gene and inheritance are autosomal recessive. Heterozygous UMPS mutations can also lead
Externí odkaz:
https://doaj.org/article/e7312330eb974954a4cfcaaa9f7d88c8
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100703- (2021)
Hereditary orotic aciduria (HOA) is a very rare inborn error of pyrimidine metabolism. It results from a defect of the uridine-5-monophosphate synthase (UMPS) gene. To date, only about twenty patients have been described. We report a case of HOA with
Externí odkaz:
https://doaj.org/article/1856f6c60f1c466c94c80f4e1a89bed8
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Richard H. Haas, Jonathan D. Bui, Michelle Sahagian, Kimberly Sherer, Aliya Frederick, Anupam Garg, Shawn Ali, Linda Nguyen
Publikováno v:
Annals of Clinical and Translational Neurology
Refractory epilepsy and encephalopathy are frequently encountered in patients with inborn errors of metabolism. We report a case of an 8‐year‐old girl with history of developmental delay, autism and intractable epilepsy that was found to have a p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbdad63e00aaffa3106cdab8bbb7a43b
https://doi.org/10.1002/acn3.51257
https://doi.org/10.1002/acn3.51257
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 71:208-210
Ornithine transcarbamylase deficiency (OTCD) is the most common of the urea cycle disorders and follows an X-linked inheritance pattern. The classical form in male infants causes vomiting and lethargy in the neonatal period; if untreated the severe h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b74507ad70086e04270d4bd5f6a5b68a
https://doi.org/10.1097/mpg.0000000000002716
https://doi.org/10.1097/mpg.0000000000002716
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
INDIAN JOURNAL OF APPLIED RESEARCH. :65-66
Hereditary orotic aciduria (HOA) is an extremely rare inborn error of pyrimidine metabolism. It results from a defect in the uridine-5-monophosphate synthase (UMPS) gene. It can result in megaloblastic anemia, developmental delay and crystalluria. Mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8ef2fc7d3437b8f0fcc12ff3683407c5
https://doi.org/10.36106/ijar/4504826
https://doi.org/10.36106/ijar/4504826
Publikováno v:
Analytical Biochemistry. 563:9-14
Excess urinary orotic acid excretion occurs in patients with some inborn errors of metabolic pathways such as pyrimidine synthesis and urea cycle. Thus, rapid diagnosis of orotic aciduria has a vital importance for patients. In this paper, a novel me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d714054e3883855d92ed0467d4399bc8
https://doi.org/10.1016/j.ab.2018.09.016
https://doi.org/10.1016/j.ab.2018.09.016