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disorder of urea cycle metabolism相关文献:
Blood metabolomics analysis identifies abnormalities in the citric acid cycle, urea cycle, and amino acid metabolism in bipolar disorder.
PMID:
Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients.
PMID:
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.
Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C.
J Inherit Metab Dis. 2019 Nov;42(6):1192-1230. doi: 10.1002/jimd.12100. Epub 2019 May 15.
PMID:30982989
Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders.
Summar ML, Mew NA.
Pediatr Clin North Am. 2018 Apr;65(2):231-246. doi: 10.1016/j.pcl.2017.11.004. Epub 2018 Feb 2.
PMID:29502911
Urea cycle disorders-update.
Matsumoto S, Häberle J, Kido J, Mitsubuchi H, Endo F, Nakamura K.
J Hum Genet. 2019 Sep;64(9):833-847. doi: 10.1038/s10038-019-0614-4. Epub 2019 May 20.
PMID:31110235
Editorial.
Häberle J, Thöny B.
J Inherit Metab Dis. 2019 Nov;42(6):1041-1043. doi: 10.1002/jimd.12179.
PMID:31769067
Neuroimaging findings of inborn errors of metabolism: urea cycle disorders, aminoacidopathies, and organic acidopathies.
Enokizono M, Aida N, Yagishita A, Nakata Y, Ideguchi R, Kurokawa R, Kono T, Moritani T, Mori H.
Jpn J Radiol. 2023 Jul;41(7):683-702. doi: 10.1007/s11604-023-01396-0. Epub 2023 Feb 2.
PMID:36729192
Perspectives on urea cycle disorder management: Results of a clinician survey.
Enns GM, Porter MH, Francis-Sedlak M, Burdett A, Vockley J.
Mol Genet Metab. 2019 Sep-Oct;128(1-2):102-108. doi: 10.1016/j.ymgme.2019.07.009. Epub 2019 Jul 18.
PMID:31377149
Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders.
Zielonka M, Kölker S, Garbade SF, Gleich F, Nagamani SCS, Gropman AL, Druck AC, Ramdhouni N, Göde L, Hoffmann GF, Posset R; Urea Cycle Disorders Consortium (UCDC).
Mol Genet Metab. 2024 Sep-Oct;143(1-2):108566. doi: 10.1016/j.ymgme.2024.108566. Epub 2024 Aug 19.
PMID:39299137
Diagnosis and treatment of urea cycle disorder in Japan.
Nakamura K, Kido J, Mitsubuchi H, Endo F.
Pediatr Int. 2014 Aug;56(4):506-9. doi: 10.1111/ped.12439.
PMID:25039902
Arginase-1 deficiency.
Sin YY, Baron G, Schulze A, Funk CD.
J Mol Med (Berl). 2015 Dec;93(12):1287-96. doi: 10.1007/s00109-015-1354-3. Epub 2015 Oct 14.
PMID:26467175
Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy.
Raina R, Bedoyan JK, Lichter-Konecki U, Jouvet P, Picca S, Mew NA, Machado MC, Chakraborty R, Vemuganti M, Grewal MK, Bunchman T, Sethi SK, Krishnappa V, McCulloch M, Alhasan K, Bagga A, Basu RK, Schaefer F, Filler G, Warady BA.
Nat Rev Nephrol. 2020 Aug;16(8):471-482. doi: 10.1038/s41581-020-0267-8. Epub 2020 Apr 8.
PMID:32269302
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