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Journal Abstract Search

214 related items for PubMed ID: 28045774

  • 1. Study of Carnitine/Acylcarnitine and Amino Acid Profile in Children and Adults With Acute Liver Failure.
    Sood V, Rawat D, Khanna R, Sharma S, Gupta PK, Alam S, Sarin SK.
    J Pediatr Gastroenterol Nutr; 2017 Jun; 64(6):869-875. PubMed ID: 28045774
    [Abstract] [Full Text] [Related]

  • 2. Carnitine palmitoyltransferase 2 deficiency: the time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation.
    Hori T, Fukao T, Kobayashi H, Teramoto T, Takayanagi M, Hasegawa Y, Yasuno T, Yamaguchi S, Kondo N.
    Tohoku J Exp Med; 2010 Jul; 221(3):191-5. PubMed ID: 20543534
    [Abstract] [Full Text] [Related]

  • 3. Differences between acylcarnitine profiles in plasma and bloodspots.
    de Sain-van der Velden MG, Diekman EF, Jans JJ, van der Ham M, Prinsen BH, Visser G, Verhoeven-Duif NM.
    Mol Genet Metab; 2013 Jul; 110(1-2):116-21. PubMed ID: 23639448
    [Abstract] [Full Text] [Related]

  • 4. Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1.
    Purevsuren J, Kobayashi H, Hasegawa Y, Yamada K, Takahashi T, Takayanagi M, Fukao T, Fukuda S, Yamaguchi S.
    Anal Bioanal Chem; 2013 Feb; 405(4):1345-51. PubMed ID: 23143007
    [Abstract] [Full Text] [Related]

  • 5. Carnitine palmitoyl transferase 1A deficiency in an adult with recurrent severe steato hepatitis aggravated by high pathologic or physiologic demands: A roller-coaster for internists.
    Phowthongkum P, Suphapeetiporn K, Shotelersuk V.
    Clin Mol Hepatol; 2019 Dec; 25(4):412-416. PubMed ID: 31234250
    [No Abstract] [Full Text] [Related]

  • 6. Altered Serum Amino Acid and Acylcarnitine Profiles in Hyperinsulinemic Hypoglycemia and Ketotic Hypoglycemia.
    Xu ZR, Zhu XY, Lu W, Sun WH, Cheng RQ, Ni JW, Xi L, Hussain K, Luo FH, Zhang MY.
    Front Endocrinol (Lausanne); 2020 Dec; 11():577373. PubMed ID: 33133020
    [Abstract] [Full Text] [Related]

  • 7. Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.
    Habib A, Azize NAA, Rahman SA, Yakob Y, Suberamaniam V, Nazri MIBA, Abdullah Sani H, Ch'ng GS, Yin LH, Olpin S, Lock-Hock N.
    Clin Biochem; 2021 Dec; 98():48-53. PubMed ID: 34626609
    [Abstract] [Full Text] [Related]

  • 8. Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis.
    Al-Thihli K, Sinclair G, Sirrs S, Mezei M, Nelson J, Vallance H.
    J Inherit Metab Dis; 2014 Mar; 37(2):207-13. PubMed ID: 23296367
    [Abstract] [Full Text] [Related]

  • 9. [Analysis of a child with carnitine palmitoyl transferase 1A deficiency due to variant of CPT1A gene].
    Zhou Z, Yang L, Liao H, Ning Z, Chen B, Jiang Z, Yang S, Wang M, Xiao Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Feb 10; 38(2):184-187. PubMed ID: 33565078
    [Abstract] [Full Text] [Related]

  • 10. Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.
    Fontaine M, Kim I, Dessein AF, Mention-Mulliez K, Dobbelaere D, Douillard C, Sole G, Schiff M, Jaussaud R, Espil-Taris C, Boutron A, Wuyts W, Acquaviva C, Vianey-Saban C, Roland D, Joncquel-Chevalier Curt M, Vamecq J.
    Mol Genet Metab; 2018 Apr 10; 123(4):441-448. PubMed ID: 29478820
    [Abstract] [Full Text] [Related]

  • 11. Rapid diagnosis of organic acidemias and fatty-acid oxidation defects by quantitative electrospray tandem-MS acyl-carnitine analysis in plasma.
    Vreken P, van Lint AE, Bootsma AH, Overmars H, Wanders RJ, van Gennip AH.
    Adv Exp Med Biol; 1999 Apr 10; 466():327-37. PubMed ID: 10709660
    [Abstract] [Full Text] [Related]

  • 12. Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific.
    Fingerhut R, Röschinger W, Muntau AC, Dame T, Kreischer J, Arnecke R, Superti-Furga A, Troxler H, Liebl B, Olgemöller B, Roscher AA.
    Clin Chem; 2001 Oct 10; 47(10):1763-8. PubMed ID: 11568084
    [Abstract] [Full Text] [Related]

  • 13. Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury.
    Akar HT, Yıldız Y, Mutluay R, Tekin E, Tokatlı A.
    CEN Case Rep; 2024 Apr 10; 13(2):81-85. PubMed ID: 37341884
    [Abstract] [Full Text] [Related]

  • 14. Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects.
    Vreken P, van Lint AE, Bootsma AH, Overmars H, Wanders RJ, van Gennip AH.
    J Inherit Metab Dis; 1999 May 10; 22(3):302-6. PubMed ID: 10384392
    [No Abstract] [Full Text] [Related]

  • 15. Clinical Reasoning: A 2-Day-Old Boy With Sudden Cardiac Arrest and Encephalopathy.
    Holmes BB, Russ JB, Wu YW, Gallagher RC, Gano D.
    Neurology; 2021 Oct 26; 97(17):e1743-e1746. PubMed ID: 34158382
    [No Abstract] [Full Text] [Related]

  • 16. [Determination of normal acylcarnitine levels in a healthy pediatric population as a diagnostic tool in inherited errors of mitochondrial fatty acid beta-oxidation].
    Osorio JH, Pourfarzam M.
    An Pediatr (Barc); 2007 Dec 26; 67(6):548-52. PubMed ID: 18053519
    [Abstract] [Full Text] [Related]

  • 17. Abnormal concentrations of esterified carnitine in bile: a feature of pediatric acute liver failure with poor prognosis.
    Shneider BL, Rinaldo P, Emre S, Bucuvalas J, Squires R, Narkewicz M, Gondolesi G, Magid M, Morotti R, Hynan LS.
    Hepatology; 2005 Apr 26; 41(4):717-21. PubMed ID: 15791615
    [Abstract] [Full Text] [Related]

  • 18. Changes in pediatric plasma acylcarnitines upon fasting for refined interpretation of metabolic stress.
    van Rijt WJ, van der Ende RM, Volker-Touw CML, van Spronsen F, Derks TGJ, Heiner-Fokkema MR.
    Mol Genet Metab; 2019 Aug 26; 127(4):327-335. PubMed ID: 31279622
    [Abstract] [Full Text] [Related]

  • 19. Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant.
    Gillingham MB, Hirschfeld M, Lowe S, Matern D, Shoemaker J, Lambert WE, Koeller DM.
    Mol Genet Metab; 2011 Nov 26; 104(3):261-4. PubMed ID: 21763168
    [Abstract] [Full Text] [Related]

  • 20. Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination.
    Shigematsu Y, Hirano S, Hata I, Tanaka Y, Sudo M, Tajima T, Sakura N, Yamaguchi S, Takayanagi M.
    J Chromatogr B Analyt Technol Biomed Life Sci; 2003 Jul 15; 792(1):63-72. PubMed ID: 12828998
    [Abstract] [Full Text] [Related]

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