BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

153 related articles for article (PubMed ID: 31199774)

  • 1. A novel mutation leading to the lethal form of carnitine palmitoyltransferase type-2 deficiency.
    Dorum S; Güney Varal I; Gorukmez O; Dogan P; Ekici A
    J Pediatr Endocrinol Metab; 2019 Jul; 32(7):781-783. PubMed ID: 31199774
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. [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]  

  • 8. Carnitine palmitoyltransferase II deficiency in a prenatal case with polycystic kidney disease-like phenotype.
    He Y; Li DZ
    Congenit Anom (Kyoto); 2020 Jul; 60(4):131-132. PubMed ID: 31599017
    [No Abstract]   [Full Text] [Related]  

  • 9. First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L.
    Shima A; Yasuno T; Yamada K; Yamaguchi M; Kohno R; Yamaguchi S; Kido H; Fukuda H
    Intern Med; 2016; 55(18):2659-61. PubMed ID: 27629963
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.
    Ferrara AM; Sciacco M; Zovato S; Rizzati S; Colombo I; Boaretto F; Moggio M; Opocher G
    Cancer Res Treat; 2016 Oct; 48(4):1438-1442. PubMed ID: 27034144
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Acute severe encephalopathy related to human herpesvirus-6 infection in a patient with carnitine palmitoyltransferase 2 deficiency carrying thermolabile variants.
    Kobayashi Y; Ishikawa N; Tsumura M; Fujii Y; Okada S; Shigematsu Y; Kobayashi M
    Brain Dev; 2013 May; 35(5):449-53. PubMed ID: 22854105
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.
    Lehmann D; Motlagh L; Robaa D; Zierz S
    Int J Mol Sci; 2017 Jan; 18(1):. PubMed ID: 28054946
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Low C0 and normal C16 and C18:1 masking the diagnosis of carnitine palmitoyltransferase II deficiency including a novel CPT2 variant: A case report.
    Wang S; Diao C; Leng J
    Arch Pediatr; 2024 Jan; 31(1):85-88. PubMed ID: 38168614
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Resveratrol-Induced Changes in MicroRNA Expression in Primary Human Fibroblasts Harboring Carnitine-Palmitoyl Transferase-2 Gene Mutation, Leading to Fatty Acid Oxidation Deficiency.
    Aires V; Delmas D; Djouadi F; Bastin J; Cherkaoui-Malki M; Latruffe N
    Molecules; 2017 Dec; 23(1):. PubMed ID: 29271911
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency.
    Deschauer M; Chrzanowska-Lightowlers ZM; Biekmann E; Pourfarzam M; Taylor RW; Turnbull DM; Zierz S
    Mol Genet Metab; 2003 Jun; 79(2):124-8. PubMed ID: 12809643
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil.
    Lorenzoni PJ; Kay CSK; Ducci RD; Fustes OJH; Rodrigues PRDVP; Arndt RC; Scola RH; Werneck LC
    Arq Neuropsiquiatr; 2024 Feb; 82(2):1-4. PubMed ID: 38395422
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Implementation of a fast method for the measurement of carnitine palmitoyltransferase 2 activity in lymphocytes by tandem mass spectrometry as confirmation for newborn screening.
    Tucci S; Behringer S; Sturm M; Grünert SC; Spiekerkoetter U
    J Inherit Metab Dis; 2019 Sep; 42(5):850-856. PubMed ID: 30957255
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation.
    Aoki J; Yasuno T; Sugie H; Kido H; Nishino I; Shigematsu Y; Kanazawa M; Takayanagi M; Kumami M; Endo K; Kaneoka H; Yamaguchi M; Fukuda T; Yamamoto T
    Neurology; 2007 Aug; 69(8):804-6. PubMed ID: 17709715
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.