BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

153 related articles for article (PubMed ID: 31199774)

  • 21. Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.
    Anichini A; Fanin M; Vianey-Saban C; Cassandrini D; Fiorillo C; Bruno C; Angelini C
    Neurol Res; 2011 Jan; 33(1):24-32. PubMed ID: 20810031
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Cause of recurrent rhabdomyolysis, carnitine palmitoyltransferase II deficiency and novel pathogenic mutation.
    Çakar NE; Gör Z; Yeşil G
    Ideggyogy Sz; 2021 Mar; 74(3-4):135-138. PubMed ID: 33938664
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency.
    Yasuno T; Kaneoka H; Tokuyasu T; Aoki J; Yoshida S; Takayanagi M; Ohtake A; Kanazawa M; Ogawa A; Tojo K; Saito T
    Clin Genet; 2008 May; 73(5):496-501. PubMed ID: 18363739
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A novel mutation identified in carnitine palmitoyltransferase II deficiency.
    Yang BZ; Ding JH; Roe D; Dewese T; Day DW; Roe CR
    Mol Genet Metab; 1998 Feb; 63(2):110-5. PubMed ID: 9562964
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Sudden infant death from neonate carnitine palmitoyl transferase II deficiency.
    Du SH; Zhang F; Yu YG; Chen CX; Wang HJ; Li DR
    Forensic Sci Int; 2017 Sep; 278():e41-e44. PubMed ID: 28739175
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients.
    Joshi PR; Deschauer M; Zierz S
    J Neurol Sci; 2014 Mar; 338(1-2):107-11. PubMed ID: 24398345
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Biochemical and molecular studies of carnitine palmitoyltransferase II deficiency with hepatocardiomyopathic presentation.
    Taroni F; Verderio E; Garavaglia B; Fiorucci S; Finocchiaro G; Uziel G; DiDonato S
    Prog Clin Biol Res; 1992; 375():521-31. PubMed ID: 1438396
    [No Abstract]   [Full Text] [Related]  

  • 30. Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.
    Isackson PJ; Bennett MJ; Vladutiu GD
    Mol Genet Metab; 2006 Dec; 89(4):323-31. PubMed ID: 16996287
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.
    Sigauke E; Rakheja D; Kitson K; Bennett MJ
    Lab Invest; 2003 Nov; 83(11):1543-54. PubMed ID: 14615409
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.
    Vladutiu GD; Quackenbush EJ; Hainline BE; Albers S; Smail DS; Bennett MJ
    J Pediatr; 2002 Nov; 141(5):734-6. PubMed ID: 12410208
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.
    Wataya K; Akanuma J; Cavadini P; Aoki Y; Kure S; Invernizzi F; Yoshida I; Kira J; Taroni F; Matsubara Y; Narisawa K
    Hum Mutat; 1998; 11(5):377-86. PubMed ID: 9600456
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency.
    Musumeci O; Aguennouz M; Comi GP; Rodolico C; Autunno M; Bordoni A; Baratta S; Taroni F; Vita G; Toscano A
    Neuromuscul Disord; 2007 Dec; 17(11-12):960-3. PubMed ID: 17651973
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports.
    Avila-Smirnow D; Boutron A; Beytía-Reyes MLÁ; Contreras-Olea O; Caicedo-Feijoo A; Gejman-Enríquez R; Escobar-Henríquez R; Förster-Mujica J
    J Med Case Rep; 2018 Aug; 12(1):249. PubMed ID: 30149802
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.
    Thuillier L; Rostane H; Droin V; Demaugre F; Brivet M; Kadhom N; Prip-Buus C; Gobin S; Saudubray JM; Bonnefont JP
    Hum Mutat; 2003 May; 21(5):493-501. PubMed ID: 12673791
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Novel mutations associated with carnitine palmitoyltransferase II deficiency.
    Taggart RT; Smail D; Apolito C; Vladutiu GD
    Hum Mutat; 1999; 13(3):210-20. PubMed ID: 10090476
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.
    Yang BZ; Ding JH; Dewese T; Roe D; He G; Wilkinson J; Day DW; Demaugre F; Rabier D; Brivet M; Roe C
    Mol Genet Metab; 1998 Aug; 64(4):229-36. PubMed ID: 9758712
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C.
    Semba S; Yasujima H; Takano T; Yokozaki H
    Pathol Int; 2008 Jul; 58(7):436-41. PubMed ID: 18577113
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.