These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

142 related articles for article (PubMed ID: 28466427)

  • 1. Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye's syndrome.
    Bellusci M; Quijada-Fraile P; Barrio-Carreras D; Martin-Hernandez E; Garcia-Silva M; Merinero B; Perez B; Hernandez-Lain A
    J Inherit Metab Dis; 2017 Sep; 40(5):751-752. PubMed ID: 28466427
    [No Abstract]   [Full Text] [Related]  

  • 2. Atypical manifestation of carnitine palmitoyltransferase 1A deficiency: hepatosplenomegaly and nephromegaly.
    Lee BH; Kim YM; Kim JH; Kim GH; Kim JM; Kim JH; Woo KH; Yang SH; Kim CJ; Choi IH; Yoo HW
    J Pediatr Gastroenterol Nutr; 2015 Mar; 60(3):e19-22. PubMed ID: 23969540
    [No Abstract]   [Full Text] [Related]  

  • 3. 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; 104(3):261-4. PubMed ID: 21763168
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. The diagnosis of carnitine palmitoyltransferase II deficiency is now possible in small skeletal muscle biopsies.
    Hargreaves IP; Heales SJ; Olpin SE; Morgan-Ughes JA; Land JM
    J Inherit Metab Dis; 2000 Jun; 23(4):352-4. PubMed ID: 10896292
    [No Abstract]   [Full Text] [Related]  

  • 6. [Carnitine palmitoyltransferase deficiency].
    Yorifuji S
    Ryoikibetsu Shokogun Shirizu; 2001; (36):54-6. PubMed ID: 11596449
    [No Abstract]   [Full Text] [Related]  

  • 7. Valproic acid triggers acute rhabdomyolysis in a patient with carnitine palmitoyltransferase type II deficiency.
    Kottlors M; Jaksch M; Ketelsen UP; Weiner S; Glocker FX; Lücking CH
    Neuromuscul Disord; 2001 Nov; 11(8):757-9. PubMed ID: 11595519
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genetics of carnitine palmitoyltransferase II deficiencies.
    Wieser T; Deschauer M; Zierz S
    Adv Exp Med Biol; 1999; 466():339-45. PubMed ID: 10709661
    [No Abstract]   [Full Text] [Related]  

  • 9. 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; 97(17):e1743-e1746. PubMed ID: 34158382
    [No Abstract]   [Full Text] [Related]  

  • 10. Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.
    Joshi PR; Zierz S
    Molecules; 2020 Apr; 25(8):. PubMed ID: 32295037
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome.
    Chapoy PR; Angelini C; Brown WJ; Stiff JE; Shug AL; Cederbaum SD
    N Engl J Med; 1980 Dec; 303(24):1389-94. PubMed ID: 7432384
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Reye syndrome and reye-like syndrome.
    Gosalakkal JA; Kamoji V
    Pediatr Neurol; 2008 Sep; 39(3):198-200. PubMed ID: 18725066
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency.
    Invernizzi F; Burlina AB; Donadio A; Giordano G; Taroni F; Garavaglia B
    J Inherit Metab Dis; 2001 Oct; 24(5):601-2. PubMed ID: 11757589
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.
    Treem WR; Witzleben CA; Piccoli DA; Stanley CA; Hale DE; Coates PM; Watkins JB
    Hepatology; 1986; 6(6):1270-8. PubMed ID: 3793003
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Carnitine palmitoyltransferase I(CPT1) deficiency].
    Yorifuji S
    Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):401-2. PubMed ID: 9590082
    [No Abstract]   [Full Text] [Related]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Carnitine palmitoyltransferase-1A deficiency: a look at classic and arctic variants.
    Dykema DM
    Adv Neonatal Care; 2012 Feb; 12(1):23-7. PubMed ID: 22301540
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Clinical features and gene mutations of 6 patients with carnitine palmitoyltransferase 1A deficiency].
    Yu Y; Shen LH; Qiu WJ; Zhang HW; Ye J; Liang LL; Wang Y; Ji WJ; Gu XF; Han LS
    Zhonghua Yi Xue Za Zhi; 2021 Apr; 101(14):1041-1044. PubMed ID: 33845545
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
    Bennett MJ; Boriack RL; Narayan S; Rutledge SL; Raff ML
    Mol Genet Metab; 2004 May; 82(1):59-63. PubMed ID: 15110323
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Effect of diet on exercise tolerance in carnitine palmitoyltransferase II deficiency.
    Ørngreen MC; Ejstrup R; Vissing J
    Neurology; 2003 Aug; 61(4):559-61. PubMed ID: 12939440
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.