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 *

183 related articles for article (PubMed ID: 31472821)

  • 21. Carnitine deficiency induces a short QT syndrome.
    Roussel J; Labarthe F; Thireau J; Ferro F; Farah C; Roy J; Horiuchi M; Tardieu M; Lefort B; François Benoist J; Lacampagne A; Richard S; Fauconnier J; Babuty D; Le Guennec JY
    Heart Rhythm; 2016 Jan; 13(1):165-74. PubMed ID: 26190315
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle.
    Longo N
    Ann Nutr Metab; 2016; 68 Suppl 3():5-9. PubMed ID: 27931018
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events.
    Rasmussen J; Nielsen OW; Lund AM; Køber L; Djurhuus H
    J Inherit Metab Dis; 2013 Jan; 36(1):35-41. PubMed ID: 22566287
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Systemic Primary Carnitine Deficiency: A Case Report with Homozygoys SLC22A5 Gene Mutation.
    Yildiz D; Yazici MU; Oguz MM; Torun EG; Sezer A; Kiliç M
    Klin Padiatr; 2022 Jul; 234(4):244-245. PubMed ID: 35820418
    [No Abstract]   [Full Text] [Related]  

  • 25. 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]  

  • 26. A newborn with seizures born to a mother diagnosed with primary carnitine deficiency.
    Chen S; Hu Y; Huang Y; Nan Y; Zhou X; Chen S; Lin J; Lin Z
    BMC Pediatr; 2019 Mar; 19(1):79. PubMed ID: 30885166
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Screening 3.4 million newborns for primary carnitine deficiency in Zhejiang Province, China.
    Lin Y; Xu H; Zhou D; Hu Z; Zhang C; Hu L; Zhang Y; Zhu L; Lu B; Zhang T; Huang X
    Clin Chim Acta; 2020 Aug; 507():199-204. PubMed ID: 32371215
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.
    Crefcoeur LL; Visser G; Ferdinandusse S; Wijburg FA; Langeveld M; Sjouke B
    J Inherit Metab Dis; 2022 May; 45(3):386-405. PubMed ID: 34997761
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [Mutational analysis of SLC22A5 gene in eight patients with systemic primary carnitine deficiency].
    Lin Y; Lin W; Yu K; Zheng F; Zheng Z; Fu Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Feb; 34(1):35-39. PubMed ID: 28186590
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Primary carnitine deficiency and sudden death: in vivo evidence of myocardial lipid peroxidation and sulfonylation of sarcoendoplasmic reticulum calcium ATPase 2.
    Mazzini M; Tadros T; Siwik D; Joseph L; Bristow M; Qin F; Cohen R; Monahan K; Klein M; Colucci W
    Cardiology; 2011; 120(1):52-8. PubMed ID: 22116472
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Carnitine Inborn Errors of Metabolism.
    Almannai M; Alfadhel M; El-Hattab AW
    Molecules; 2019 Sep; 24(18):. PubMed ID: 31500110
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Biochemical and genetic characteristics of 40 neonates with carnitine deficiency.
    Zhou X; Teng Y; Lin-Peng S; Li Z; Wu L; Liang D
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2020 Oct; 45(10):1164-1171. PubMed ID: 33268576
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. 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]  

  • 36. 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]  

  • 37. Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.
    Gallant NM; Leydiker K; Wilnai Y; Lee C; Lorey F; Feuchtbaum L; Tang H; Carter J; Enns GM; Packman S; Lin HJ; Wilcox WR; Cederbaum SD; Abdenur JE
    Mol Genet Metab; 2017 Nov; 122(3):76-84. PubMed ID: 28711408
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Genetic and prenatal diagnosis for a Chinese family with primary carnitine deficiency].
    Su Y; Liu Y; Xie J; Xu Z; Wu W; Geng Q; Luo F
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Aug; 32(4):490-4. PubMed ID: 26252091
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency.
    Hitomi T; Matsuura N; Shigematsu Y; Okano Y; Shinozaki E; Kawai M; Kobayashi H; Harada KH; Koizumi A
    J Genet; 2015 Mar; 94(1):147-50. PubMed ID: 25846890
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.