BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

170 related articles for article (PubMed ID: 25827434)

  • 1. Diagnostic pitfall in antenatal manifestations of CPT II deficiency.
    Boemer F; Deberg M; Schoos R; Caberg JH; Gaillez S; Dugauquier C; Delbecque K; François A; Maton P; Demonceau N; Senterre G; Ferdinandusse S; Debray FG
    Clin Genet; 2016 Feb; 89(2):193-7. PubMed ID: 25827434
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome.
    Serra G; Antona V; Insinga V; Morgante G; Vassallo A; Placa S; Piro E; Salerno S; Schierz IAM; Gitto E; Giuffrè M; Corsello G
    Ital J Pediatr; 2024 Apr; 50(1):67. PubMed ID: 38616285
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Carnitine palmitoyltransferase deficiencies.
    Bonnefont JP; Demaugre F; Prip-Buus C; Saudubray JM; Brivet M; Abadi N; Thuillier L
    Mol Genet Metab; 1999 Dec; 68(4):424-40. PubMed ID: 10607472
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death.
    Yahyaoui R; Espinosa MG; Gómez C; Dayaldasani A; Rueda I; Roldán A; Ugarte M; Lastra G; Pérez V
    Mol Genet Metab; 2011 Nov; 104(3):414-6. PubMed ID: 21641254
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 110(1-2):116-21. PubMed ID: 23639448
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 123(4):441-448. PubMed ID: 29478820
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
    Tajima G; Hara K; Tsumura M; Kagawa R; Okada S; Sakura N; Maruyama S; Noguchi A; Awaya T; Ishige M; Ishige N; Musha I; Ajihara S; Ohtake A; Naito E; Hamada Y; Kono T; Asada T; Sasai H; Fukao T; Fujiki R; Ohara O; Bo R; Yamada K; Kobayashi H; Hasegawa Y; Yamaguchi S; Takayanagi M; Hata I; Shigematsu Y; Kobayashi M
    Mol Genet Metab; 2017 Nov; 122(3):67-75. PubMed ID: 28801073
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [CPT2 gene mutation analysis and prenatal diagnosis in a family with carnitine palmitoyltransferase II deficiency].
    Tan JQ; Chen DY; Li WG; Li ZT; Huang JW; Yan TZ; Cai R
    Zhongguo Dang Dai Er Ke Za Zhi; 2016 Dec; 18(12):1282-1285. PubMed ID: 27974123
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patient.
    Cho SY; Siu TS; Ma O; Tam S; Lam CW
    Clin Chim Acta; 2013 Oct; 425():125-7. PubMed ID: 23911907
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibs.
    Meir K; Fellig Y; Meiner V; Korman SH; Shaag A; Nadjari M; Soffer D; Ariel I
    Pediatr Dev Pathol; 2009; 12(6):481-6. PubMed ID: 19335026
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Serious pregnancy complications in a patient with previously undiagnosed carnitine palmitoyltransferase 1 deficiency.
    Ylitalo K; Vänttinen T; Halmesmäki E; Tyni T
    Am J Obstet Gynecol; 2005 Jun; 192(6):2060-2. PubMed ID: 15970898
    [TBL] [Abstract][Full Text] [Related]  

  • 12. CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
    Isackson PJ; Bennett MJ; Lichter-Konecki U; Willis M; Nyhan WL; Sutton VR; Tein I; Vladutiu GD
    Mol Genet Metab; 2008 Aug; 94(4):422-427. PubMed ID: 18550408
    [TBL] [Abstract][Full Text] [Related]  

  • 13. New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency.
    Stanley CA
    Adv Pediatr; 1987; 34():59-88. PubMed ID: 3318304
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical characteristics and genetic analysis of six children with carnitine palmitoyltransferase 2 deficiency.
    Zhang Y; Qiu W; Zhang H; Chen T; Xu F; Gu X; Han L
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2024 Apr; 53(2):207-212. PubMed ID: 38650450
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Octanoate is differentially metabolized in liver and muscle and fails to rescue cardiomyopathy in CPT2 deficiency.
    Pereyra AS; Harris KL; Soepriatna AH; Waterbury QA; Bharathi SS; Zhang Y; Fisher-Wellman KH; Goergen CJ; Goetzman ES; Ellis JM
    J Lipid Res; 2021; 62():100069. PubMed ID: 33757734
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys.
    North KN; Hoppel CL; De Girolami U; Kozakewich HP; Korson MS
    J Pediatr; 1995 Sep; 127(3):414-20. PubMed ID: 7658272
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.
    Tajima G; Hara K; Yuasa M
    J Hum Genet; 2019 Feb; 64(2):87-98. PubMed ID: 30514913
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.
    Spiegel R; Shaag A; Gutman A; Korman SH; Saada A; Elpeleg O; Shalev SA
    J Inherit Metab Dis; 2007 Apr; 30(2):266. PubMed ID: 17372854
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Normal protein content but abnormally inhibited enzyme activity in muscle carnitine palmitoyltransferase II deficiency.
    Lehmann D; Zierz S
    J Neurol Sci; 2014 Apr; 339(1-2):183-8. PubMed ID: 24602495
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defect.
    Tan YY; Fong WYN; Chan CJ; Chandran S
    BMJ Case Rep; 2022 Dec; 15(12):. PubMed ID: 36535739
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.