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 *

157 related articles for article (PubMed ID: 30069296)

  • 21. Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up.
    Yilmaz BS; Kor D; Mungan NO; Erdem S; Ceylaner S
    J Pediatr Endocrinol Metab; 2015 Sep; 28(9-10):1179-81. PubMed ID: 26030785
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Pharmacological and pathophysiological roles of carnitine/organic cation transporters (OCTNs: SLC22A4, SLC22A5 and Slc22a21).
    Tamai I
    Biopharm Drug Dispos; 2013 Jan; 34(1):29-44. PubMed ID: 22952014
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.
    Lee NC; Tang NL; Chien YH; Chen CA; Lin SJ; Chiu PC; Huang AC; Hwu WL
    Mol Genet Metab; 2010 May; 100(1):46-50. PubMed ID: 20074989
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.
    Wang Y; Taroni F; Garavaglia B; Longo N
    Hum Mutat; 2000 Nov; 16(5):401-7. PubMed ID: 11058897
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Primary systemic carnitine deficiency presenting as recurrent Reye-like syndrome and dilated cardiomyopathy.
    Hou JW
    Chang Gung Med J; 2002 Dec; 25(12):832-7. PubMed ID: 12635840
    [TBL] [Abstract][Full Text] [Related]  

  • 28. SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation.
    Yoon YA; Lee DH; Ki CS; Lee SY; Kim JW; Lee YW; Park HD
    Ann Clin Lab Sci; 2012; 42(4):424-8. PubMed ID: 23090741
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation.
    Louis L; Margaux G; Claire G; Delphine L; Sandrine R; Emmanuel R; Cécile G; Samir M; Isabelle RV
    JIMD Rep; 2023 Jan; 64(1):35-41. PubMed ID: 36636599
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect.
    Mutlu-Albayrak H; Bene J; Oflaz MB; Tanyalçın T; Çaksen H; Melegh B
    Case Rep Genet; 2015; 2015():259627. PubMed ID: 26075114
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!
    Grünert SC; Tucci S; Schumann A; Schwendt M; Gramer G; Hoffmann GF; Erbel M; Stiller B; Spiekerkoetter U
    Orphanet J Rare Dis; 2020 Apr; 15(1):87. PubMed ID: 32276632
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.
    El-Hattab AW; Li FY; Shen J; Powell BR; Bawle EV; Adams DJ; Wahl E; Kobori JA; Graham B; Scaglia F; Wong LJ
    Genet Med; 2010 Jan; 12(1):19-24. PubMed ID: 20027113
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency.
    Mayatepek E; Nezu J; Tamai I; Oku A; Katsura M; Shimane M; Tsuji A
    Hum Mutat; 2000 Jan; 15(1):118. PubMed ID: 10612840
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter.
    Nezu J; Tamai I; Oku A; Ohashi R; Yabuuchi H; Hashimoto N; Nikaido H; Sai Y; Koizumi A; Shoji Y; Takada G; Matsuishi T; Yoshino M; Kato H; Ohura T; Tsujimoto G; Hayakawa J; Shimane M; Tsuji A
    Nat Genet; 1999 Jan; 21(1):91-4. PubMed ID: 9916797
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Maternal Primary Carnitine Deficiency and a Novel Solute Carrier Family 22 Member 5 (SLC22A5) Mutation.
    Jakoby M; Jaju A; Marsh A; Wilber A
    J Investig Med High Impact Case Rep; 2021; 9():23247096211019543. PubMed ID: 34032155
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report.
    De Biase I; Champaigne NL; Schroer R; Pollard LM; Longo N; Wood T
    JIMD Rep; 2012; 2():87-90. PubMed ID: 23430858
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [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]  

  • 39. Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency.
    Amat di San Filippo C; Wang Y; Longo N
    J Biol Chem; 2003 Nov; 278(48):47776-84. PubMed ID: 14506273
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake.
    Stanley CA; DeLeeuw S; Coates PM; Vianey-Liaud C; Divry P; Bonnefont JP; Saudubray JM; Haymond M; Trefz FK; Breningstall GN
    Ann Neurol; 1991 Nov; 30(5):709-16. PubMed ID: 1763895
    [TBL] [Abstract][Full Text] [Related]  

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