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 *

261 related articles for article (PubMed ID: 32268899)

  • 1. Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.
    Luo X; Hu J; Gao X; Fan Y; Sun Y; Gu X; Qiu W
    BMC Med Genet; 2020 Apr; 21(1):74. PubMed ID: 32268899
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review.
    Zhan Q; Lv Z; Tang Q; Huang L; Chen X; Yang M; Lan L; Shan Q
    Medicine (Baltimore); 2021 Apr; 100(16):e25520. PubMed ID: 33879691
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene.
    Jagadisan B; Ranganath P
    Indian Pediatr; 2017 Sep; 54(9):775-776. PubMed ID: 28984260
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Glycogen storage disease type VI: clinical course and molecular background.
    Aeppli TR; Rymen D; Allegri G; Bode PK; Häberle J
    Eur J Pediatr; 2020 Mar; 179(3):405-413. PubMed ID: 31768638
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A Novel, Recurrent, 3.6-kb Deletion in the PYGL Gene Contributes to Glycogen Storage Disease Type VI.
    Liu B; Wu B; Lu Y; Zhang P; Xiao F; Li G; Wang H; Dong X; Liu R; Li Y; Xie X; Zhou W; Wang J; Lu Y
    J Mol Diagn; 2020 Dec; 22(12):1373-1382. PubMed ID: 32961316
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China.
    Luo X; Duan Y; Fang D; Sun Y; Xiao B; Zhang H; Han L; Liang L; Gong Z; Gu X; Yu Y; Qiu W
    Hum Mutat; 2022 May; 43(5):557-567. PubMed ID: 35143115
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel mutation (G233D) in the glycogen phosphorylase gene in a patient with hepatic glycogen storage disease and residual enzyme activity.
    Tang NL; Hui J; Young E; Worthington V; To KF; Cheung KL; Li CK; Fok TF
    Mol Genet Metab; 2003 Jun; 79(2):142-5. PubMed ID: 12809646
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.
    Lu SQ; Feng JY; Liu J; Xie XB; Lu Y; Abuduxikuer K
    J Pediatr Endocrinol Metab; 2020 Sep; 33(10):1321-1333. PubMed ID: 32892177
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI.
    Grünert SC; Hannibal L; Spiekerkoetter U
    Genes (Basel); 2021 Aug; 12(8):. PubMed ID: 34440378
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and genetic spectrum of GSD type 6 in Korea.
    Hahn JW; Lee H; Seong MW; Kang GH; Moon JS; Ko JS
    Orphanet J Rare Dis; 2023 Jun; 18(1):132. PubMed ID: 37264426
    [TBL] [Abstract][Full Text] [Related]  

  • 11. High frequency of missense mutations in glycogen storage disease type VI.
    Beauchamp NJ; Taybert J; Champion MP; Layet V; Heinz-Erian P; Dalton A; Tanner MS; Pronicka E; Sharrard MJ
    J Inherit Metab Dis; 2007 Oct; 30(5):722-34. PubMed ID: 17705025
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.
    Roscher A; Patel J; Hewson S; Nagy L; Feigenbaum A; Kronick J; Raiman J; Schulze A; Siriwardena K; Mercimek-Mahmutoglu S
    Mol Genet Metab; 2014 Nov; 113(3):171-6. PubMed ID: 25266922
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Clinical features and genetic analysis of a child with glycogen storage disease type VI].
    Su L; Zhu C; Wu J; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Oct; 39(10):1099-1102. PubMed ID: 36184091
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.
    Burwinkel B; Bakker HD; Herschkovitz E; Moses SW; Shin YS; Kilimann MW
    Am J Hum Genet; 1998 Apr; 62(4):785-91. PubMed ID: 9529348
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX.
    Yu J; Ling X; Chen L; Fang Y; Lin H; Lou J; Ren Y; Chen J
    Clin Genet; 2024 Sep; 106(3):267-276. PubMed ID: 38576397
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Genetic analysis of PYGL gene variants for a child with Glycogen storage disease VI].
    Zheng Y; Kong G; Hu G; Zheng B; Li M
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Feb; 39(2):209-212. PubMed ID: 35076922
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.
    Chang S; Rosenberg MJ; Morton H; Francomano CA; Biesecker LG
    Hum Mol Genet; 1998 May; 7(5):865-70. PubMed ID: 9536091
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Intermittent and recurrent hepatomegaly due to glycogen storage in a patient with type 1 diabetes: genetic analysis of the liver glycogen phosphorylase gene (PYGL).
    Tomihira M; Kawasaki E; Nakajima H; Imamura Y; Sato Y; Sata M; Kage M; Sugie H; Nunoi K
    Diabetes Res Clin Pract; 2004 Aug; 65(2):175-82. PubMed ID: 15223230
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Liver histology in children with glycogen storage disorders type VI and IX.
    Degrassi I; Deheragoda M; Creegen D; Mundy H; Mustafa A; Vara R; Hadzic N
    Dig Liver Dis; 2021 Jan; 53(1):86-93. PubMed ID: 32505569
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 14.