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 *

262 related articles for article (PubMed ID: 32244026)

  • 1. Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel.
    Kim TH; Kim KY; Kim MJ; Seong MW; Park SS; Moon JS; Ko JS
    Eur J Med Genet; 2020 Jun; 63(6):103921. PubMed ID: 32244026
    [TBL] [Abstract][Full Text] [Related]  

  • 2. PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature.
    Li C; Huang L; Tian L; Chen J; Li S; Yang Z
    J Pediatr Endocrinol Metab; 2018 Mar; 31(3):331-338. PubMed ID: 29360628
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Glycogen storage disease type IX: High variability in clinical phenotype.
    Beauchamp NJ; Dalton A; Ramaswami U; Niinikoski H; Mention K; Kenny P; Kolho KL; Raiman J; Walter J; Treacy E; Tanner S; Sharrard M
    Mol Genet Metab; 2007; 92(1-2):88-99. PubMed ID: 17689125
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.
    Davit-Spraul A; Piraud M; Dobbelaere D; Valayannopoulos V; Labrune P; Habes D; Bernard O; Jacquemin E; Baussan C
    Mol Genet Metab; 2011; 104(1-2):137-43. PubMed ID: 21646031
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases.
    Liang Y; Du C; Wei H; Zhang C; Zhang M; Hu M; Fang F; Luo X
    Mol Genet Genomic Med; 2020 Oct; 8(10):e1444. PubMed ID: 32772503
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review.
    Fu J; Wang T; Xiao X
    BMC Med Genet; 2019 Mar; 20(1):56. PubMed ID: 30925902
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2
    Gibson RA; Lim JA; Choi SJ; Flores L; Clinton L; Bali D; Young S; Asokan A; Sun B; Kishnani PS
    Mol Genet Metab; 2021 Jul; 133(3):269-276. PubMed ID: 34083142
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Splicing abnormalities caused by a novel mutation in the
    Zhang ZH; Zheng BX; Zhuo YJ; Jin Y; Liu ZF; Zheng YC
    Zhonghua Gan Zang Bing Za Zhi; 2023 Apr; 31(4):428-432. PubMed ID: 37248983
    [No Abstract]   [Full Text] [Related]  

  • 9. PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.
    Benner A; Alhaidan Y; Lines MA; Brusgaard K; De Leon DD; Sparkes R; Frederiksen AL; Christesen HT
    Am J Med Genet A; 2021 Oct; 185(10):2959-2975. PubMed ID: 34117828
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.
    Eur J Pediatr; ; . PubMed ID: 24326380
    [TBL] [Abstract][Full Text] [Related]  

  • 11.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 12.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 13.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 14.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 15.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 16.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 17.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 18.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 19.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

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

    [Next]    [New Search]
    of 14.