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 *

115 related articles for article (PubMed ID: 33809020)

  • 21. Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases.
    Dong R; Wei X; Zhang K; Song F; Lv Y; Gao M; Wang D; Ma J; Gai Z; Liu Y
    Front Genet; 2022; 13():932760. PubMed ID: 36105079
    [No Abstract]   [Full Text] [Related]  

  • 22. 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]  

  • 23. A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.
    Okubo M; Horinishi A; Nakamura N; Aoyama Y; Hashimoto M; Endo Y; Murase T
    Hum Genet; 1998 Jan; 102(1):1-5. PubMed ID: 9490286
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. 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]  

  • 26. Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature.
    Beyzaei Z; Ezgu F; Geramizadeh B; Alborzi A; Shojazadeh A
    BMC Pediatr; 2021 Apr; 21(1):175. PubMed ID: 33858366
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.
    Skakic A; Djordjevic M; Sarajlija A; Klaassen K; Tosic N; Kecman B; Ugrin M; Spasovski V; Pavlovic S; Stojiljkovic M
    Clin Genet; 2018 Feb; 93(2):350-355. PubMed ID: 28685844
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A patient with glycogen storage disease type Ia combined with chronic hepatitis B infection: a case report.
    Wang W; Yu R; Tan W; Dan Y; Deng G; Xia J
    BMC Med Genet; 2019 May; 20(1):85. PubMed ID: 31109299
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.
    Shen J; Bao Y; Liu HM; Lee P; Leonard JV; Chen YT
    J Clin Invest; 1996 Jul; 98(2):352-7. PubMed ID: 8755644
    [TBL] [Abstract][Full Text] [Related]  

  • 31. [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]  

  • 32. Nutrition therapy for hepatic glycogen storage diseases.
    Goldberg T; Slonim AE
    J Am Diet Assoc; 1993 Dec; 93(12):1423-30. PubMed ID: 8245377
    [TBL] [Abstract][Full Text] [Related]  

  • 33. [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]  

  • 34. Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.
    Okubo M; Horinishi A; Suzuki Y; Murase T; Hayasaka K
    Am J Med Genet; 2000 Jul; 93(3):211-4. PubMed ID: 10925384
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly.
    Kim JA; Kim JH; Lee BH; Kim GH; Shin YS; Yoo HW; Kim KM
    Pediatr Gastroenterol Hepatol Nutr; 2015 Jun; 18(2):138-43. PubMed ID: 26157701
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.
    Akanuma J; Nishigaki T; Fujii K; Matsubara Y; Inui K; Takahashi K; Kure S; Suzuki Y; Ohura T; Miyabayashi S; Ogawa E; Iinuma K; Okada S; Narisawa K
    Am J Med Genet; 2000 Mar; 91(2):107-12. PubMed ID: 10748407
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Molecular characterization of glycogen storage disease type III.
    Shen JJ; Chen YT
    Curr Mol Med; 2002 Mar; 2(2):167-75. PubMed ID: 11949933
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A new variant in
    Rodríguez-Jiménez C; Santos-Simarro F; Campos-Barros Á; Camarena C; Lledín D; Vallespín E; Del Pozo Á; Mena R; Lapunzina P; Rodríguez-Nóvoa S
    Mol Genet Metab Rep; 2017 Mar; 10():52-55. PubMed ID: 28116244
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A patient with glycogen storage disease type 0 and a novel sequence variant in
    Arko JJ; Debeljak M; Tansek MZ; Battelino T; Groselj U
    J Int Med Res; 2020 Aug; 48(8):300060520936857. PubMed ID: 32779500
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.