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 *

153 related articles for article (PubMed ID: 10650322)

  • 1. Familial carnitine transporter defect: A treatable cause of cardiomyopathy in children.
    Pierpont ME; Breningstall GN; Stanley CA; Singh A
    Am Heart J; 2000 Feb; 139(2 Pt 3):S96-S106. PubMed ID: 10650322
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [A cause of dilated cardiomyopathy in a child: primary carnitine deficiency].
    Baragou S; Pio M; Di Bernardo S; Ksontini TB; Dommange SJ; Bonafe L; Meijboom E; Sekarski N
    Ann Cardiol Angeiol (Paris); 2014 Apr; 63(2):107-10. PubMed ID: 22260907
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A missense mutation in the OCTN2 gene associated with residual carnitine transport activity.
    Wang Y; Kelly MA; Cowan TM; Longo N
    Hum Mutat; 2000; 15(3):238-45. PubMed ID: 10679939
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency.
    Rahbeeni Z; Vaz FM; Al-Hussein K; Bucknall MP; Ruiter J; Wanders RJ; Rashed MS
    J Inherit Metab Dis; 2002 Sep; 25(5):363-9. PubMed ID: 12408185
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter.
    Bennett MJ; Hale DE; Pollitt RJ; Stanley CA; Variend S
    Clin Cardiol; 1996 Mar; 19(3):243-6. PubMed ID: 8674264
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.
    Shibbani K; Fahed AC; Al-Shaar L; Arabi M; Nemer G; Bitar F; Majdalani M
    Clin Genet; 2014 Feb; 85(2):127-37. PubMed ID: 23379544
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2.
    Spiekerkoetter U; Huener G; Baykal T; Demirkol M; Duran M; Wanders R; Nezu J; Mayatepek E
    J Inherit Metab Dis; 2003; 26(6):613-5. PubMed ID: 14605509
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency.
    Wang Y; Ye J; Ganapathy V; Longo N
    Proc Natl Acad Sci U S A; 1999 Mar; 96(5):2356-60. PubMed ID: 10051646
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.
    Makhseed N; Vallance HD; Potter M; Waters PJ; Wong LT; Lillquist Y; Pasquali M; Amat di San Filippo C; Longo N
    J Inherit Metab Dis; 2004; 27(6):778-80. PubMed ID: 15617188
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport.
    Waber LJ; Valle D; Neill C; DiMauro S; Shug A
    J Pediatr; 1982 Nov; 101(5):700-5. PubMed ID: 7131143
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.
    Vaz FM; Scholte HR; Ruiter J; Hussaarts-Odijk LM; Pereira RR; Schweitzer S; de Klerk JB; Waterham HR; Wanders RJ
    Hum Genet; 1999; 105(1-2):157-61. PubMed ID: 10480371
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Case report: efficacy of oral carnitine therapy for dilated cardiomyopathy in boxer dogs.
    Costa ND; Labuc RH
    J Nutr; 1994 Dec; 124(12 Suppl):2687S-2692S. PubMed ID: 7996270
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Dilated Cardiomyopathy as the Only Clinical Manifestation of Carnitine Transporter Deficiency.
    Papadopoulou-Legbelou K; Gogou M; Dokousli V; Eboriadou M; Evangeliou A
    Indian J Pediatr; 2017 Mar; 84(3):231-233. PubMed ID: 27807682
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Carnitine membrane transporter deficiency: a rare treatable cause of cardiomyopathy and anemia.
    Cano A; Ovaert C; Vianey-Saban C; Chabrol B
    Pediatr Cardiol; 2008 Jan; 29(1):163-5. PubMed ID: 17926086
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Reversible cardiomyopathy due to carnitine deficiency from renal tubular wasting.
    Zales VR; Benson DW
    Pediatr Cardiol; 1995; 16(2):76-8. PubMed ID: 7784239
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy.
    Kinali M; Olpin SE; Clayton PT; Daubeney PE; Mercuri E; Manzur AY; Tein I; Leonard J; Muntoni F
    Eur J Paediatr Neurol; 2004; 8(4):217-9. PubMed ID: 15261886
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Carnitine transport and fatty acid oxidation.
    Longo N; Frigeni M; Pasquali M
    Biochim Biophys Acta; 2016 Oct; 1863(10):2422-35. PubMed ID: 26828774
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death.
    Lahrouchi N; Lodder EM; Mansouri M; Tadros R; Zniber L; Adadi N; Clur SB; van Spaendonck-Zwarts KY; Postma AV; Sefiani A; Ratbi I; Bezzina CR
    Eur J Hum Genet; 2017 Jun; 25(6):783-787. PubMed ID: 28295041
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry.
    Wilcken B; Wiley V; Sim KG; Carpenter K
    J Pediatr; 2001 Apr; 138(4):581-4. PubMed ID: 11295726
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence.
    Rijlaarsdam RS; van Spronsen FJ; Bink-Boelkens MT; Reijngoud DJ; Wanders RJ; Niezen-Koning KE; Van der Sluijs FH; Dorland B; Beaufort-Krol GC
    Pacing Clin Electrophysiol; 2004 May; 27(5):675-6. PubMed ID: 15125729
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.