يعرض 1 - 3 نتائج من 3 نتيجة بحث عن '"SLOS, Smith-Lemli-Opitz syndrome"', وقت الاستعلام: 0.64s تنقيح النتائج
  1. 1

    المصدر: Journal of Lipid Research, Vol 62, Iss, Pp 100002-(2021)
    Journal of Lipid Research

    مصطلحات موضوعية: 0301 basic medicine, LC-MS, liquid chromatography-mass spectrometry, dHLan, 24-dihydrolanosterol, 14d-Zyme, 14-dehydrozymostenol, 7-DHC, 7-dehydrocholesterol, 030204 cardiovascular system & hematology, SREBF1/2, sterol regulatory element binding transcription factor half, PPARA, peroxisome proliferator activated receptor alpha, Biochemistry, LKO, liver-specific knockout, LDLR, low density lipoprotein receptor, 0302 clinical medicine, Endocrinology, CYP27A1, Conditional gene knockout, CEACAM1, carcinoembryonic antigen-related cell adhesion molecule 1, Glucose homeostasis, DMAP, 4-dimethylaminopyridine, FDFT1, Farnesyl-diphosphate farnesyl transferase 1, 7-dehydrocholesterol, GEO, Gene Expression Omnibus, SRM, selected reaction monitoring, PPh3, triphenylphosphine, NR1H2/3/4/5, nuclear receptor subfamily 1 group H member 2/3/4/5, 14d-Zym, 14-dehydrozymosterol, ESI, electrospray ionization, Chol, cholesterol, MTTP, microsomal triglyceride transfer protein, dysmorphology, SCARB1, scavenger receptor class B member 1, CYP7A1, cytochrome P450 family 7 subfamily A member 1, FAS, fatty acid synthase, HMGCR, 3-hydroxy-3-methylglutaryl-CoA reductase, Lan, lanosterol, TPM, transcript per million, 7-DHD, 7-dehydrodesmosterol, Knockout mouse, GTT, glucose tolerance test, IACUC, institutional animal care and use committee, Research Article, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, LIPC, hepatic triacylglycerol lipase, CHCl3, trichloromethane, CYP8B1, cytochrome P450 family 8 subfamily B member 1, Et3N, triethylamine, PPARG, peroxisome proliferator activated receptor gamma, ABCB11, ATP binding cassette subfamily B member 11, QD415-436, Biology, Cholesterol 7 alpha-hydroxylase, CD36, cluster of differentiation 36, CYP27A1, cytochrome P450 family 27 subfamily A member 1, ABCG1/5/8, ATP binding cassette subfamily G member 1/5/8, DHCR7, 3β-hydroxysterol-Δ7 reductase, Des, desmosterol, 03 medical and health sciences, Smith-Lemli-Opitz syndrome, Zyme, zymostenol, Internal medicine, DHCR24, 3β-hydroxysterol-Δ24 reductase, medicine, Lath, lathosterol, Liver X receptor, BHT, 2,6-di-tert-butyl-4-methylphenol, 8-DHC, 8-dehydrocholesterol, ITT, insulin tolerance test, UPLC, ultra performance liquid chromatography, ES, embryonic stem, Zym, zymosterol, Cell Biology, medicine.disease, SCARB1, 030104 developmental biology, SmithLemliOpitz syndrome, ABCA1, ATP binding cassette subfamily A member 1, cholesterol synthesis, DMG, dimethylglycine, DHL, 24-dehydrolathosterol, SLOS, Smith-Lemli-Opitz syndrome, APO, apolipoprotein, LXR, liver X receptor, PCSK9, proprotein convertase subtilisin/kexin type 9

  2. 2

    المصدر: Redox Biology, Vol 12, Iss, Pp 182-190 (2017)
    Redox Biology

  3. 3

    المصدر: Chemistry and Physics of Lipids

    مصطلحات موضوعية: 7-OC, 7-oxocholesterol, MSn, MS with multistage fragmentation, HSD, hydroxysteroid dehydrogenase, 3β,7α-diHCA(25R), 3β,7α-dihydroxycholest-5-en-(25R)26-oic acid, Molecular Conformation, 7α-HC, 7α-hydroxycholesterol, 3β,7β-diHCA(25S), 3β,7β-dihydroxycholest-5-en-(25S)26-oic acid, Mass Spectrometry, 3β,7α-diHCA(25S), 3β,7α-dihydroxycholest-5-en-(25S)26-oic acid, 25-HC, 25-hydroxycholesterol, CTX, cerebrotendinous xanthomatosis, LIT, linear ion trap, 7αH,3O-CA(25S), 7α-hydroxy-3-oxocholest-4-en-(25S)26-oic acid, LC, liquid chromatography, Stereoisomerism, Oxysterols, 7αH,3O-Δ4-BA, 7α-hydroxy-3-oxochol-4-enoic acid, EADSA, enzyme-assisted derivatisation for steroid analysis, CYP, cytochrome P450, NPC, Niemann Pick type C, 7αH,3O-CA(25R), 7α-hydroxy-3-oxocholest-4-en-(25R)26-oic acid, GC, gas chromatography, Oxidoreductases, 3β,7β-diHCA(25R), 3β,7β-dihydroxycholest-5-en-(25R)26-oic acid, AMACR, alphamethylacyl-CoA racemase, Hydroxycholesterol, Article, 24R-HC, 24R-hydroxycholesterol, Cholestenoic acid, Epimer, 3β,7α-diH-Δ5-BA, 3β,7α-dihydroxychol-5-enoic acid, ACOX2, acyl-coenzyme A oxidase 2, Humans, ComputingMethodologies_COMPUTERGRAPHICS, Sterol, SRM, standard reference material, (25R)26-HC, (25R)26-hydroxycholesterol, Cholestenes, 7β-HC, 7β-hydroxycholesterol, Cholic Acids, RIC, reconstructed ion chromatogram, 7α-HCO, 7α-hydroxycholest-4-en-3-one, MS, mass spectrometry, ESI, electrospray ionisation, SLOS, Smith-Lemli-Opitz syndrome, 24S-HC, 24S-hydroxycholesterol, 3β,7β-diH-Δ 5-BA, 3β,7β-dihydroxychol-5-enoic acid, GP, Girard P reagent, Derivatisation, MRM, multiple reaction monitoring, Chromatography, Liquid