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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

319 related items for PubMed ID: 33054851

  • 1. Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature.
    Beyzaei Z, Geramizadeh B, Karimzadeh S.
    Orphanet J Rare Dis; 2020 Oct 14; 15(1):286. PubMed ID: 33054851
    [Abstract] [Full Text] [Related]

  • 2. 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 14; 106(3):267-276. PubMed ID: 38576397
    [Abstract] [Full Text] [Related]

  • 3. Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
    Kishnani PS, Goldstein J, Austin SL, Arn P, Bachrach B, Bali DS, Chung WK, El-Gharbawy A, Brown LM, Kahler S, Pendyal S, Ross KM, Tsilianidis L, Weinstein DA, Watson MS, ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX.
    Genet Med; 2019 Apr 14; 21(4):772-789. PubMed ID: 30659246
    [Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5. Hepatic ultrasound findings in the glycogen storage diseases.
    Lee P, Mather S, Owens C, Leonard J, Dicks-Mireaux C.
    Br J Radiol; 1994 Nov 14; 67(803):1062-6. PubMed ID: 7820397
    [Abstract] [Full Text] [Related]

  • 6. Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.
    Vega AI, Medrano C, Navarrete R, Desviat LR, Merinero B, Rodríguez-Pombo P, Vitoria I, Ugarte M, Pérez-Cerdá C, Pérez B.
    Genet Med; 2016 Oct 14; 18(10):1037-43. PubMed ID: 26913919
    [Abstract] [Full Text] [Related]

  • 7. Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.
    Paesold-Burda P, Baumgartner MR, Santer R, Bosshard NU, Steinmann B.
    J Inherit Metab Dis; 2007 Nov 14; 30(6):896-902. PubMed ID: 17994282
    [Abstract] [Full Text] [Related]

  • 8. Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing.
    Beyzaei Z, Ezgu F, Geramizadeh B, Imanieh MH, Haghighat M, Dehghani SM, Honar N, Zahmatkeshan M, Jassbi A, Mahboubifar M, Alborzi A.
    Sci Rep; 2021 Mar 29; 11(1):7040. PubMed ID: 33782433
    [Abstract] [Full Text] [Related]

  • 9. Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.
    Massese M, Tagliaferri F, Dionisi-Vici C, Maiorana A.
    Orphanet J Rare Dis; 2022 Jun 20; 17(1):241. PubMed ID: 35725468
    [Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

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

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

  • 13. Nutrition therapy for hepatic glycogen storage diseases.
    Goldberg T, Slonim AE.
    J Am Diet Assoc; 1993 Dec 20; 93(12):1423-30. PubMed ID: 8245377
    [Abstract] [Full Text] [Related]

  • 14. Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
    Sperb-Ludwig F, Pinheiro FC, Bettio Soares M, Nalin T, Ribeiro EM, Steiner CE, Ribeiro Valadares E, Porta G, Fishinger Moura de Souza C, Schwartz IVD.
    Mol Genet Genomic Med; 2019 Nov 20; 7(11):e877. PubMed ID: 31508908
    [Abstract] [Full Text] [Related]

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

  • 16. Novel variants in Turkish patients with glycogen storage disease.
    Çakar NE, Gezdirici A, Topuz HŞ, Önal H.
    Pediatr Int; 2020 Oct 20; 62(10):1145-1150. PubMed ID: 32374048
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 18(1):132. PubMed ID: 37264426
    [Abstract] [Full Text] [Related]

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

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

  • 20. 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 01; 113(3):171-6. PubMed ID: 25266922
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 16.