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 *

165 related articles for article (PubMed ID: 31302912)

  • 1. [SLC22A5 gene mutation analysis and prenatal diagnosis for a family with primary carnitine deficiency].
    Tan J; Chen D; Li Z; Yuan D; Liu B; Yan T; Huang J; Cai R
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jul; 36(7):690-693. PubMed ID: 31302912
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [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]  

  • 3. [Genetic diagnosis of 10 neonates with primary carnitine deficiency].
    Tan JQ; Chen DY; Li ZT; Yan TZ; Huang JW; Cai R
    Zhongguo Dang Dai Er Ke Za Zhi; 2017 Nov; 19(11):1150-1154. PubMed ID: 29132460
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Clinical and genetic characteristics of primary carnitine deficiency identified by neonatal screening].
    Li X; Zhu X; Jia C; Ni M; Li Y; Zhang L; Zhao D
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Dec; 36(12):1167-1170. PubMed ID: 31813139
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Newborn screening for primary carnitine deficiency and variant spectrum of SLC22A5 gene in Guangzhou].
    Huang YL; Tang CF; Liu SC; Sheng HY; Tang F; Jiang X; Zheng RD; Mei HF; Liu L
    Zhonghua Er Ke Za Zhi; 2020 Jun; 58(6):476-481. PubMed ID: 32521959
    [No Abstract]   [Full Text] [Related]  

  • 6. 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]  

  • 7. [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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.
    Ferdinandusse S; Te Brinke H; Ruiter JPN; Haasjes J; Oostheim W; van Lenthe H; IJlst L; Ebberink MS; Wanders RJA; Vaz FM; Waterham HR
    Hum Mutat; 2019 Oct; 40(10):1899-1904. PubMed ID: 31187905
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular investigation in Chinese patients with primary carnitine deficiency.
    Zhang Y; Li H; Liu J; Yan H; Liu Q; Wei X; Xi H; Jia Z; Wu L; Wang H
    Mol Genet Genomic Med; 2019 Sep; 7(9):e901. PubMed ID: 31364285
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency.
    Chen Y; Lin Q; Zeng Y; Qiu X; Liu G; Zhu W
    Mol Genet Genomic Med; 2021 Feb; 9(2):e1583. PubMed ID: 33560599
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular Autopsy Implicates Primary Carnitine Deficiency in Sudden Unexplained Death and Reversible Short QT Syndrome.
    Gélinas R; Leach E; Horvath G; Laksman Z
    Can J Cardiol; 2019 Sep; 35(9):1256.e1-1256.e2. PubMed ID: 31472821
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical features and genotyping of patients with primary carnitine deficiency identified by newborn screening.
    Sun Y; Wang YY; Jiang T
    J Pediatr Endocrinol Metab; 2017 Aug; 30(8):879-883. PubMed ID: 28753539
    [TBL] [Abstract][Full Text] [Related]  

  • 16. SLC22A5 Mutations in a Patient With Systemic Primary Carnitine Deficiency and Cleft Palate-Successful Perioperative Management.
    Hu CW; Hu CH; Wu-Chou YH; Lo LJ
    J Craniofac Surg; 2018 Sep; 29(6):1601-1603. PubMed ID: 29750726
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Genetics and pedigree analysis of primary carnitine deficiency cardiomyopathy in 6 cases].
    Rao J; Zeng G; Wang S; Zhang Z; Li Y; Zhang C
    Zhonghua Er Ke Za Zhi; 2014 Jul; 52(7):544-7. PubMed ID: 25224063
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Genotype-phenotype correlation in primary carnitine deficiency.
    Rose EC; di San Filippo CA; Ndukwe Erlingsson UC; Ardon O; Pasquali M; Longo N
    Hum Mutat; 2012 Jan; 33(1):118-23. PubMed ID: 21922592
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.