BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 34729746)

  • 1. [Analysis of two cases of glycogen storage disease type III due to compound heterozygous variants of AGL gene].
    Zhang M; Wang C; Xie Z; Wu C; Long Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Nov; 38(11):1073-1076. PubMed ID: 34729746
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Molecular genetic analysis of 10 Chinese patients with glycogen storage disease type III].
    Wang X; Qiu WJ; Ye J; Han LS; Zhang HW; Jiang LR; Zhang YF; Gu XF
    Zhonghua Er Ke Za Zhi; 2009 Jun; 47(6):416-20. PubMed ID: 19951465
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.
    Wang J; Yu Y; Cai C; Zhi X; Zhang Y; Zhao Y; Shu J
    BMC Pediatr; 2022 May; 22(1):284. PubMed ID: 35578201
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China.
    Zhang Y; Xu M; Chen X; Yan A; Zhang G; Liu Z; Qiu W
    BMC Med Genet; 2018 Apr; 19(1):54. PubMed ID: 29614965
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.
    Basit S; Malibari O; Al Balwi AM; Abdusamad F; Abu Ismail F
    Ann Saudi Med; 2014; 34(5):390-5. PubMed ID: 25827695
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.
    Okubo M; Ucar SK; Podskarbi T; Murase T; Shin YS; Coker M
    Clin Chim Acta; 2015 Jan; 439():162-7. PubMed ID: 25451950
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Analysis of three families with recurrence of non-immune hydrops fetalis by trio whole exome sequencing].
    Zhang T; Zhu X; Gao Z; Huang W; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Oct; 38(10):937-941. PubMed ID: 34625927
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease].
    Mantilla C; Toro M; Sepúlveda ME; Insuasty M; Di Filippo D; López JÁ; Baquero C; Navas MC; Arias AA
    Biomedica; 2018 May; 38(0):30-42. PubMed ID: 29809327
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Identification of a novel mutation of AGL gene in two siblings affected with glycogen storage disease type IIIa].
    Guo L; Lin W; Mao M; Song Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Aug; 34(4):499-503. PubMed ID: 28777846
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene].
    Zhang Q; Feng X; Wang X; Liu F; Zhou B; Zhang C; Wang Y; Shi J; Hao S; Hui L; Yi B
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Apr; 41(4):467-472. PubMed ID: 38565514
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.
    Lu C; Qiu Z; Sun M; Wang W; Wei M; Zhang X
    J Hum Genet; 2016 Jul; 61(7):641-5. PubMed ID: 26984562
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Analysis of PRX gene variants in a child with Charcot-Marie-Tooth disease type 4F].
    Yang Y; Ye S; Lyu Y; Xin H; Gao M; Ma J; Wang D; Gai Z; Liu Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jul; 39(7):749-753. PubMed ID: 35810435
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Analysis of pathogenic variants of USH2A gene in a child with Usher syndrome type II].
    Tang K; Jiang L; Yao J; Yang S; Shen G
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Oct; 38(10):966-968. PubMed ID: 34625933
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Mutation analysis of glycogen debrancher enzyme gene in five Chinese patients with glycogen storage disease type III].
    Zhuang TF; Qiu ZQ; Wei M; Huang SZ
    Zhonghua Er Ke Za Zhi; 2005 Feb; 43(2):85-8. PubMed ID: 15833157
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [A case of SIFD syndrome caused by novel compound heterozygous variants of TRNT1 gene].
    Wang J; He X; Chen D; Hang S; Gao Y; Li X; Hu K; Bai C; Chen Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Oct; 38(10):977-980. PubMed ID: 34625936
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Analysis of clinical characteristics and genetic variants in a child with Isolated sulfite oxidase deficiency].
    Yang Z; Quan Y; Wang Y; Chen G; Ma Y; Xu K
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Aug; 40(8):986-989. PubMed ID: 37532499
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Analysis of ACAT1 gene variants in a patient with β-ketothiolase deficiency].
    Sun C; Zhang Q; Kong L; Wang Y; Zhang L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Feb; 38(2):166-169. PubMed ID: 33565073
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.
    Abdullah IS; Teh SH; Khaidizar FD; Ngu LH; Keng WT; Yap S; Mohamed Z
    Genes Genomics; 2019 Aug; 41(8):885-893. PubMed ID: 31028654
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Clinical and genetic analysis of a child with Canavan disease due to compound heterozygous variants of ASPA gene].
    Niu S; Ma Y; Lyu Y; Xin H; Wang D; Wang Y; Yang Y; Li Z; Liu Y; Gai Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Feb; 41(2):225-229. PubMed ID: 38311564
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III.
    Horinishi A; Okubo M; Tang NL; Hui J; To KF; Mabuchi T; Okada T; Mabuchi H; Murase T
    J Hum Genet; 2002; 47(2):55-9. PubMed ID: 11924557
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.