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Items: 1 to 20 of 299

  • The following term was not found in PubMed: keytones.
1.

Adverse Childhood Experiences, Epigenetic Measures, and Obesity in Youth.

Kaufman J, Montalvo-Ortiz JL, Holbrook H, O'Loughlin K, Orr C, Kearney C, Yang BZ, Wang T, Zhao H, Althoff R, Garavan H, Gelernter J, Hudziak J.

J Pediatr. 2018 Aug 31. pii: S0022-3476(18)30876-X. doi: 10.1016/j.jpeds.2018.06.051. [Epub ahead of print]

PMID:
30177354
2.

Selective Screening of Fatty Acids Oxidation Defects and Organic Acidemias by Liquid Chromatography/tandem Mass Spectrometry Acylcarnitine Analysis in Brazilian Patients.

Vargas CR, Ribas GS, da Silva JM, Sitta A, Deon M, de Moura Coelho D, Wajner M.

Arch Med Res. 2018 Apr;49(3):205-212. doi: 10.1016/j.arcmed.2018.08.004. Epub 2018 Aug 16.

PMID:
30119976
3.

Lipid storage myopathies: Current treatments and future directions.

Vasiljevski ER, Summers MA, Little DG, Schindeler A.

Prog Lipid Res. 2018 Aug 9;72:1-17. doi: 10.1016/j.plipres.2018.08.001. [Epub ahead of print] Review.

PMID:
30099045
4.

Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy.

Yıldız Y, Olsen RKJ, Sivri HS, Akçören Z, Nygaard HH, Tokatlı A.

Neuromuscul Disord. 2018 Sep;28(9):787-790. doi: 10.1016/j.nmd.2018.05.009. Epub 2018 May 31.

PMID:
30061063
5.

Coenzyme Q10 serves to couple mitochondrial oxidative phosphorylation and fatty acid β-oxidation, and attenuates NLRP3 inflammasome activation.

Chokchaiwong S, Kuo YT, Lin SH, Hsu YC, Hsu SP, Liu YT, Chou AJ, Kao SH.

Free Radic Res. 2018 Sep 11:1-11. doi: 10.1080/10715762.2018.1500695. [Epub ahead of print]

PMID:
30003820
6.

Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.

Fan X, Xie B, Zou J, Luo J, Qin Z, D'Gama AM, Shi J, Yi S, Yang Q, Wang J, Luo S, Chen S, Agrawal PB, Li Q, Shen Y.

Mol Genet Metab Rep. 2018 Jun 11;16:15-19. doi: 10.1016/j.ymgmr.2018.05.007. eCollection 2018 Sep.

7.

Persistent hypoglycemia associated with lipid storage myopathy in a paint foal.

Pinn TL, Divers TJ, Southard T, De Bernardis NP, Wakshlag JJ, Valberg S.

J Vet Intern Med. 2018 Jul;32(4):1442-1446. doi: 10.1111/jvim.15218. Epub 2018 Jun 29.

8.

Gene expression signature for detection of gastric cancer in peripheral blood.

Shi J, Cheng C, Ma J, Liew CC, Geng X.

Oncol Lett. 2018 Jun;15(6):9802-9810. doi: 10.3892/ol.2018.8577. Epub 2018 Apr 25.

9.

Integrative analysis of genome-wide association study and brain region related enhancer maps identifies biological pathways for insomnia.

Ding M, Li P, Wen Y, Zhao Y, Cheng B, Zhang L, Ma M, Cheng S, Liu L, Du Y, Liang X, He A, Guo X, Zhang F.

Prog Neuropsychopharmacol Biol Psychiatry. 2018 Aug 30;86:180-185. doi: 10.1016/j.pnpbp.2018.05.026. Epub 2018 Jun 6.

PMID:
29883697
10.

Effect of a Sodium and Calcium DL-β-Hydroxybutyrate Salt in Healthy Adults.

Fischer T, Och U, Klawon I, Och T, Grüneberg M, Fobker M, Bordewick-Dell U, Marquardt T.

J Nutr Metab. 2018 Apr 12;2018:9812806. doi: 10.1155/2018/9812806. eCollection 2018.

11.

Genome-wide association analyses identify new loci influencing intraocular pressure.

Gao XR, Huang H, Nannini DR, Fan F, Kim H.

Hum Mol Genet. 2018 Jun 15;27(12):2205-2213. doi: 10.1093/hmg/ddy111.

PMID:
29617998
12.

Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.

Goh LL, Lee Y, Tan ES, Lim JSC, Lim CW, Dalan R.

BMC Med Genomics. 2018 Apr 3;11(1):37. doi: 10.1186/s12920-018-0356-8.

13.

Muscle Magnetic Resonance Imaging for the Differentiation of Multiple Acyl-CoA Dehydrogenase Deficiency and Immune-mediated Necrotizing Myopathy.

Zhao YW, Liu XJ, Zhang W, Wang ZX, Yuan Y.

Chin Med J (Engl). 2018 Jan 20;131(2):144-150. doi: 10.4103/0366-6999.222323.

14.

Bacterial Production, Characterization and Protein Modeling of a Novel Monofuctional Isoform of FAD Synthase in Humans: An Emergency Protein?

Leone P, Galluccio M, Barbiroli A, Eberini I, Tolomeo M, Vrenna F, Gianazza E, Iametti S, Bonomi F, Indiveri C, Barile M.

Molecules. 2018 Jan 6;23(1). pii: E116. doi: 10.3390/molecules23010116.

15.

Bivariate Genome-Wide Association Study of Depressive Symptoms With Type 2 Diabetes and Quantitative Glycemic Traits.

Haljas K, Amare AT, Alizadeh BZ, Hsu YH, Mosley T, Newman A, Murabito J, Tiemeier H, Tanaka T, van Duijn C, Ding J, Llewellyn DJ, Bennett DA, Terracciano A, Launer L, Ladwig KH, Cornelis MC, Teumer A, Grabe H, Kardia SLR, Ware EB, Smith JA, Snieder H, Eriksson JG, Groop L, Räikkönen K, Lahti J.

Psychosom Med. 2018 Apr;80(3):242-251. doi: 10.1097/PSY.0000000000000555.

PMID:
29280852
16.

A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.

van der Westhuizen FH, Smuts I, Honey E, Louw R, Schoonen M, Jonck LM, Dercksen M.

J Neurol Sci. 2018 Jan 15;384:121-125. doi: 10.1016/j.jns.2017.11.012. Epub 2017 Nov 15.

PMID:
29249369
17.

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

Mosegaard S, Bruun GH, Flyvbjerg KF, Bliksrud YT, Gregersen N, Dembic M, Annexstad E, Tangeraas T, Olsen RKJ, Andresen BS.

Mol Genet Metab. 2017 Dec;122(4):182-188. doi: 10.1016/j.ymgme.2017.10.014. Epub 2017 Nov 2.

PMID:
29122468
18.

[Screening for fatty acid oxidation disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].

Zheng J, Zhang Y, Hong F, Yang J, Tong F, Mao H, Huang X, Zhou X, Yang R, Zhao Z, Huang X.

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2017 May 25;46(3):248-255. Chinese.

PMID:
29039165
19.

LRCstats, a tool for evaluating long reads correction methods.

La S, Haghshenas E, Chauve C.

Bioinformatics. 2017 Nov 15;33(22):3652-3654. doi: 10.1093/bioinformatics/btx489.

PMID:
29036421
20.

Expanding the genetic heterogeneity of intellectual disability.

Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S, Alhashem A, Shamseldin HE, AlZahrani F, Patel N, Ibrahim N, Abdulwahab FM, Hashem M, Alhashmi N, Al Murshedi F, Al Kindy A, Alshaer A, Rumayyan A, Al Tala S, Kurdi W, Alsaman A, Alasmari A, Banu S, Sultan T, Saleh MM, Alkuraya H, Salih MA, Aldhalaan H, Ben-Omran T, Al Musafri F, Ali R, Suleiman J, Tabarki B, El-Hattab AW, Bupp C, Alfadhel M, Al Tassan N, Monies D, Arold ST, Abouelhoda M, Lashley T, Houlden H, Faqeih E, Alkuraya FS.

Hum Genet. 2017 Nov;136(11-12):1419-1429. doi: 10.1007/s00439-017-1843-2. Epub 2017 Sep 22. Erratum in: Hum Genet. 2017 Dec 29;:.

PMID:
28940097

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