Zobrazeno 1 - 5
of 5
pro vyhledávání: '"arginosuccinate lyase deficiency"'
Autor:
Elizabeth K. Nadeau, D. Thor Johnson, Vinayak Rohan, Ricardo Yamada, B. Joseph Elmunzer, Nagraj Kasi, Jared White, Patrick B Dennis, Satish N. Nadig
Publikováno v:
Journal of Pediatric Surgery Case Reports, Vol 59, Iss, Pp 101509-(2020)
A 2-year-old male with arginosuccinate lyase deficiency underwent left lateral segment liver transplantation complicated by “orphan duct syndrome (Celik et al., 2019) [1]” and biliary leak. After revision of the Roux-en-Y anastomosis, biliary dra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1299d450609d990b5d532c800bd119e9
http://www.sciencedirect.com/science/article/pii/S2213576620301433
http://www.sciencedirect.com/science/article/pii/S2213576620301433
Publikováno v:
Metabolic Brain Disease. 33:1517-1523
Urea cycle disorders (UCDs) are inherited metabolic diseases that lead to hyperammonemia. Neurodevelopmental outcomes of patients with UCDs depend on the maximum ammonia concentration (MAC) in the blood during onset. MAC ≥360 μM is a marker of poo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bc24105d904d0c281fe26f84c5efbe4
https://doi.org/10.1007/s11011-018-0259-6
https://doi.org/10.1007/s11011-018-0259-6
Publikováno v:
Early Human Development, 85(7), 461-465. ELSEVIER IRELAND LTD
Background: Predicting later outcome in neonates presenting with severe inborn errors of metabolism (IEM) is difficult. The assessment of the early motor repertoire is a reliable method of evaluating the integrity of the central nervous system in you
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcfc2ad4e1a5d1117aa0631c63a64718
https://research.rug.nl/en/publications/b8c6656e-e681-4426-addd-e9288dd58cd7
https://research.rug.nl/en/publications/b8c6656e-e681-4426-addd-e9288dd58cd7
Autor:
George F. Grady, Arnold W. Strauss, Eileen F. Fitzgerald, Roger B. Eaton, Anne Marie Comeau, Thomas H. Zytkovicz, Donna M. Johnson, Deborah Marsden, Vivian E. Shih, Cecilia A. Larson
Publikováno v:
Clinical Chemistry. 47:1945-1955
Background: Tandem mass spectrometry (MS/MS) is rapidly being adopted by newborn screening programs to screen dried blood spots for >20 markers of disease in a single assay. Limited information is available for setting the marker cutoffs and for the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6bc9de3d6483ece062c97df13dca1b53
https://doi.org/10.1093/clinchem/47.11.1945
https://doi.org/10.1093/clinchem/47.11.1945
Background: Argininosuccinate lyase (ASL) deficiency is an autosomal recessive urea cycle disorder often presenting with acute encephalomyopathy in the neonatal period. Although ASL is mainly expressed in liver, it is also present in other organs, li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3848::9fbf35ba2f6ed0354d171d195bb41b1e
https://biblio.vub.ac.be/vubir/epilepsy-starting-7-years-after-successful-liver-transplantation-in-a-girl-with-arginosuccinate-lyase-deficiency-mri-and-mrs-findings(5b799a6e-bc0e-446b-9bb4-be42e88af899).html
https://biblio.vub.ac.be/vubir/epilepsy-starting-7-years-after-successful-liver-transplantation-in-a-girl-with-arginosuccinate-lyase-deficiency-mri-and-mrs-findings(5b799a6e-bc0e-446b-9bb4-be42e88af899).html
