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β amino acid metabolism disorder相关文献:
Homocysteine and Hyperhomocysteinaemia.
Zaric BL, Obradovic M, Bajic V, Haidara MA, Jovanovic M, Isenovic ER.
Curr Med Chem. 2019;26(16):2948-2961. doi: 10.2174/0929867325666180313105949.
PMID:29532755
Homocysteine metabolism.
Selhub J.
Annu Rev Nutr. 1999;19:217-46. doi: 10.1146/annurev.nutr.19.1.217.
PMID:10448523
Hyperhomocysteinaemia.
Perry DJ.
Baillieres Best Pract Res Clin Haematol. 1999 Sep;12(3):451-77. doi: 10.1053/beha.1999.0036.
PMID:10856981
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kölker S, Möslinger D, Pasquini E, Santer R, Schwab KO, Wilcken B, Fowler B, Yue WW, Baumgartner MR.
Orphanet J Rare Dis. 2012 May 29;7:31. doi: 10.1186/1750-1172-7-31.
PMID:22642865
Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances.
Ziegler SG, Kim J, Ehmsen JT, Vernon HJ.
Dis Model Mech. 2023 Nov 1;16(11):dmm050233. doi: 10.1242/dmm.050233. Epub 2023 Nov 23.
PMID:37994477
Homocystinuria.
Przyrembel H.
Ergeb Inn Med Kinderheilkd. 1982;49:77-135. doi: 10.1007/978-3-642-68543-9_2.
PMID:7049692
Monoamine neurotransmitter deficiencies.
Pearl PL.
Handb Clin Neurol. 2013;113:1819-25. doi: 10.1016/B978-0-444-59565-2.00051-4.
PMID:23622404
Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria.
Majtan T, Kožich V, Kruger WD.
Br J Pharmacol. 2023 Feb;180(3):264-278. doi: 10.1111/bph.15991. Epub 2022 Dec 8.
PMID:36417581
Inborn Errors of Metabolism: Becoming Ready for Rare.
Vergano SAS.
Pediatr Rev. 2022 Jul 1;43(7):371-383. doi: 10.1542/pir.2022-005088.
PMID:35773536
Commentary.
Cardoso F.
Mov Disord. 2013 Jul;28(8):1057-8. doi: 10.1002/mds.25540. Epub 2013 Jul 1.
PMID:23818447
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