BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

156 related articles for article (PubMed ID: 30069296)

  • 1. A case of atypical systemic primary carnitine deficiency in Saudi Arabia.
    Alghamdi A; Almalki H; Shawli A; Waggass R; Hakami F
    Pediatr Rep; 2018 May; 10(2):7705. PubMed ID: 30069296
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.
    Magoulas PL; El-Hattab AW
    Orphanet J Rare Dis; 2012 Sep; 7():68. PubMed ID: 22989098
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Primary carnitine deficiency in a 57-year-old patient with recurrent exertional rhabdomyolysis.
    Echaniz-Laguna A; Biancalana V; Gaignard P; Chanson JB
    BMJ Case Rep; 2018 Jun; 2018():. PubMed ID: 29895548
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency.
    Basan H; Azak E; Çetin İİ; Kiliç E; Bilginer Gürbüz B; Özbey SZ; Kasapkara ÇS
    Mol Syndromol; 2024 Mar; 15(2):156-160. PubMed ID: 38585546
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency.
    Han L; Wang F; Wang Y; Ye J; Qiu W; Zhang H; Gao X; Gong Z; Gu X
    Eur J Med Genet; 2014 Oct; 57(10):571-5. PubMed ID: 25132046
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency.
    Kilic M; Ozgül RK; Coşkun T; Yücel D; Karaca M; Sivri HS; Tokatli A; Sahin M; Karagöz T; Dursun A
    JIMD Rep; 2012; 3():17-23. PubMed ID: 23430869
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly.
    Deswal S; Bijarnia-Mahay S; Manocha V; Hara K; Shigematsu Y; Saxena R; Verma IC
    Indian J Pediatr; 2017 Jan; 84(1):83-85. PubMed ID: 27581592
    [TBL] [Abstract][Full Text] [Related]  

  • 10. First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder.
    Guevara-Campos J; González-Guevara L; Guevara-González J; Cauli O
    Brain Sci; 2019 Jun; 9(6):. PubMed ID: 31200524
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Cardiomyopathy and carnitine deficiency.
    Amat di San Filippo C; Taylor MR; Mestroni L; Botto LD; Longo N
    Mol Genet Metab; 2008 Jun; 94(2):162-6. PubMed ID: 18337137
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Disorders of carnitine transport and the carnitine cycle.
    Longo N; Amat di San Filippo C; Pasquali M
    Am J Med Genet C Semin Med Genet; 2006 May; 142C(2):77-85. PubMed ID: 16602102
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening.
    Verbeeten KC; Lamhonwah AM; Bulman D; Faghfoury H; Chakraborty P; Tein I; Geraghty MT
    Mol Genet Metab; 2020 Mar; 129(3):213-218. PubMed ID: 31864849
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. A case of early diagnosed carnitine deficiency presenting with respiratory symptoms.
    Erguven M; Yilmaz O; Koc S; Caki S; Ayhan Y; Donmez M; Dolunay G
    Ann Nutr Metab; 2007; 51(4):331-4. PubMed ID: 17726310
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Functional and molecular studies in primary carnitine deficiency.
    Frigeni M; Balakrishnan B; Yin X; Calderon FRO; Mao R; Pasquali M; Longo N
    Hum Mutat; 2017 Dec; 38(12):1684-1699. PubMed ID: 28841266
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.