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Understanding amyloid fibril nucleation and aβ oligomer/drug interactions from computer simulations.
Nguyen P, Derreumaux P.
Acc Chem Res. 2014 Feb 18;47(2):603-11. doi: 10.1021/ar4002075. Epub 2013 Dec 24.
PMID:24368046
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.
Ferdinandusse S, Denis S, Hogenhout EM, Koster J, van Roermund CW, IJlst L, Moser AB, Wanders RJ, Waterham HR.
Hum Mutat. 2007 Sep;28(9):904-12. doi: 10.1002/humu.20535.
PMID:17458872
Excretion of short-chain N-acylglycines in the urine of a patient with D-glyceric acidemia.
Kølvraa S, Gregersen N, Brandt NJ.
Clin Chim Acta. 1980 Sep 25;106(2):215-21. doi: 10.1016/0009-8981(80)90174-6.
PMID:7408214
START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients.
Utz JR, Lorentz CP, Markowitz D, Rudser KD, Diethelm-Okita B, Erickson D, Whitley CB.
Mol Genet Metab. 2012 Feb;105(2):193-7. doi: 10.1016/j.ymgme.2011.10.014. Epub 2011 Oct 29.
PMID:22112818
Maple syrup urine disease in calves: a clinical, pathological and biochemical study.
Harper PA, Dennis JA, Healy PJ, Brown GK.
Aust Vet J. 1989 Feb;66(2):46-9. doi: 10.1111/j.1751-0813.1989.tb03014.x.
PMID:2712767
Glutamatergic and GABAergic gene sets in attention-deficit/hyperactivity disorder: association to overlapping traits in ADHD and autism.
Naaijen J, Bralten J, Poelmans G; IMAGE consortium; Glennon JC, Franke B, Buitelaar JK.
Transl Psychiatry. 2017 Jan 10;7(1):e999. doi: 10.1038/tp.2016.273.
PMID:28072412
l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation.
Edvardson S, Korman SH, Livne A, Shaag A, Saada A, Nalbandian R, Allouche-Arnon H, Gomori JM, Katz-Brull R.
Mol Genet Metab. 2010 Oct-Nov;101(2-3):228-32. doi: 10.1016/j.ymgme.2010.06.021. Epub 2010 Jul 7.
PMID:20682460
Localization of cyclophilin A and cyclophilin C mRNA in murine kidney using RT-PCR.
Otsuka M, Terada Y, Yang T, Nonoguchi H, Tomita K, Marumo F.
Kidney Int. 1994 May;45(5):1340-5. doi: 10.1038/ki.1994.175.
PMID:8072246
Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene.
Manga P, Kromberg JG, Box NF, Sturm RA, Jenkins T, Ramsay M.
Am J Hum Genet. 1997 Nov;61(5):1095-101. doi: 10.1086/301603.
PMID:9345097
Acyl-CoA: glycine N-acyltransferase: in vitro studies on the glycine conjugation of straight- and branched-chained acyl-CoA esters in human liver.
Gregersen N, Kølvraa S, Mortensen PB.
Biochem Med Metab Biol. 1986 Apr;35(2):210-8. doi: 10.1016/0885-4505(86)90076-9.
PMID:3707752
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