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metabolic disorder of urea cycle 相关文献:
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.
Wang H, Ran J, Jiang T.
Subcell Biochem. 2014;73:7-29. doi: 10.1007/978-94-017-9343-8_2.
PMID:25298336
Hyperammonemia in Inherited Metabolic Diseases.
Ribas GS, Lopes FF, Deon M, Vargas CR.
Cell Mol Neurobiol. 2022 Nov;42(8):2593-2610. doi: 10.1007/s10571-021-01156-6. Epub 2021 Oct 19.
PMID:34665389
Citrulline in the management of patients with urea cycle disorders.
Imbard A, Bouchereau J, Arnoux JB, Brassier A, Schiff M, Bérat CM, Pontoizeau C, Benoist JF, Josse C, Montestruc F, de Lonlay P.
Orphanet J Rare Dis. 2023 Jul 21;18(1):207. doi: 10.1186/s13023-023-02800-8.
PMID:37480106
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
The functional impact of 1,570 individual amino acid substitutions in human OTC.
Lo RS, Cromie GA, Tang M, Teng K, Owens K, Sirr A, Kutz JN, Morizono H, Caldovic L, Ah Mew N, Gropman A, Dudley AM.
Am J Hum Genet. 2023 May 4;110(5):863-879. doi: 10.1016/j.ajhg.2023.03.019.
PMID:37146589
Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.
Posset R, Kölker S, Gleich F, Okun JG, Gropman AL, Nagamani SCS, Scharre S, Probst J, Walter ME, Hoffmann GF, Garbade SF, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) consortia study group.
Mol Genet Metab. 2020 Dec;131(4):390-397. doi: 10.1016/j.ymgme.2020.10.013. Epub 2020 Nov 7.
PMID:33288448
The challenge of understanding and predicting phenotypic diversity in urea cycle disorders.
Posset R, Zielonka M, Gleich F, Garbade SF, Hoffmann GF, Kölker S; Urea Cycle Disorders Consortium (UCDC) and European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group.
J Inherit Metab Dis. 2023 Nov;46(6):1007-1016. doi: 10.1002/jimd.12678. Epub 2023 Oct 10.
PMID:37702610
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
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.
Posset R, Garbade SF, Gleich F, Scharre S, Okun JG, Gropman AL, Nagamani SCS, Druck AC, Epp F, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group.
Genet Med. 2024 Apr;26(4):101039. doi: 10.1016/j.gim.2023.101039. Epub 2023 Dec 3.
PMID:38054409
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