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157 related items for PubMed ID: 38576397

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [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; 21(4):772-789. PubMed ID: 30659246
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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 07; 33(10):1321-1333. PubMed ID: 32892177
    [Abstract] [Full Text] [Related]

  • 6. The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI.
    Grünert SC, Hannibal L, Spiekerkoetter U.
    Genes (Basel); 2021 Aug 03; 12(8):. PubMed ID: 34440378
    [Abstract] [Full Text] [Related]

  • 7. Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan.
    Ahmed S, Akbar F, Ali AJ, Afroze B.
    J Pediatr Endocrinol Metab; 2022 Mar 28; 35(3):373-385. PubMed ID: 34989216
    [Abstract] [Full Text] [Related]

  • 8. Neurological Characteristics of Pediatric Glycogen Storage Disease.
    Muzetti JH, do Valle DA, Santos MLSF, Telles BA, Cordeiro ML.
    Front Endocrinol (Lausanne); 2021 Mar 28; 12():685272. PubMed ID: 34093448
    [Abstract] [Full Text] [Related]

  • 9. 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 29; 20(1):56. PubMed ID: 30925902
    [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 01; 18(1):132. PubMed ID: 37264426
    [Abstract] [Full Text] [Related]

  • 11. 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 08; 21(1):74. PubMed ID: 32268899
    [Abstract] [Full Text] [Related]

  • 12. Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population.
    Ersoy M, Uyanik B, Gedikbasi A.
    Genes (Basel); 2021 Dec 15; 12(12):. PubMed ID: 34946936
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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 Oct 14; 13():932760. PubMed ID: 36105079
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 21(1):175. PubMed ID: 33858366
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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 29; 63(6):103921. PubMed ID: 32244026
    [Abstract] [Full Text] [Related]

  • 18. Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa.
    Zhang J, Yuan Y, Ma M, Liu Y, Zhang W, Yao F, Qiu Z.
    Gene; 2017 Sep 05; 627():149-156. PubMed ID: 28627441
    [Abstract] [Full Text] [Related]

  • 19. Hepatic ultrasound findings in the glycogen storage diseases.
    Lee P, Mather S, Owens C, Leonard J, Dicks-Mireaux C.
    Br J Radiol; 1994 Nov 05; 67(803):1062-6. PubMed ID: 7820397
    [Abstract] [Full Text] [Related]

  • 20. 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 05; 30(6):896-902. PubMed ID: 17994282
    [Abstract] [Full Text] [Related]

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