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 *

113 related articles for article (PubMed ID: 1822791)

  • 21. Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features.
    Coleman RA; Winter HS; Wolf B; Chen YT
    J Inherit Metab Dis; 1992; 15(6):869-81. PubMed ID: 1293383
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice.
    Pagliarani S; Lucchiari S; Ulzi G; Ripolone M; Violano R; Fortunato F; Bordoni A; Corti S; Moggio M; Bresolin N; Comi GP
    Biochim Biophys Acta Mol Basis Dis; 2018 Oct; 1864(10):3407-3417. PubMed ID: 30076962
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa.
    Horvath JJ; Austin SL; Jones HN; Drake EJ; Case LE; Soher BJ; Bashir MR; Kishnani PS
    Mol Genet Metab; 2012 Nov; 107(3):496-500. PubMed ID: 23062577
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme.
    Yang BZ; Ding JH; Enghild JJ; Bao Y; Chen YT
    J Biol Chem; 1992 May; 267(13):9294-9. PubMed ID: 1374391
    [TBL] [Abstract][Full Text] [Related]  

  • 25. X-linked glycogen storage disease. A cause of hypotonia, hyperuricemia, and growth retardation.
    Keating JP; Brown BI; White NH; DiMauro S
    Am J Dis Child; 1985 Jun; 139(6):609-13. PubMed ID: 3859203
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3.
    Schoser B; Gläser D; Müller-Höcker J
    Am J Med Genet A; 2008 Nov; 146A(22):2911-5. PubMed ID: 18924225
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Identification of a 5' splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa.
    Uotani S; Yamasaki H; Takino H; Kawasaki E; Matsuo H; Yamasaki S; Jinno Y; Niikawa N; Ito M; Sugie H; Yamaguchi Y; Eguchi K
    J Inherit Metab Dis; 2000 Jul; 23(5):527-8. PubMed ID: 10947213
    [No Abstract]   [Full Text] [Related]  

  • 28. Generation of three induced pluripotent stem cell lines from patients with glycogen storage disease type III.
    Rossiaud L; Pellier E; Benabides M; Nissan X; Ronzitti G; Hoch L
    Stem Cell Res; 2023 Oct; 72():103214. PubMed ID: 37769385
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III.
    Okubo M; Aoyama Y; Murase T
    Biochem Biophys Res Commun; 1996 Jul; 224(2):493-9. PubMed ID: 8702417
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A hypotonic infant with complete deficiencies of acid maltase and debrancher enzyme.
    Tsao CY; Boesel CP; Wright FS
    J Child Neurol; 1994 Jan; 9(1):90-1. PubMed ID: 8151092
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.
    Parvari R; Shen J; Hershkovitz E; Chen YT; Moses SW
    J Inherit Metab Dis; 1998 Apr; 21(2):141-8. PubMed ID: 9584265
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Natural Progression of Canine Glycogen Storage Disease Type IIIa.
    Brooks ED; Yi H; Austin SL; Thurberg BL; Young SP; Fyfe JC; Kishnani PS; Sun B
    Comp Med; 2016 Feb; 66(1):41-51. PubMed ID: 26884409
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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.
    Chen YT
    Hum Genet; 1999 Jan; 104(1):111-2. PubMed ID: 10071203
    [No Abstract]   [Full Text] [Related]  

  • 34. 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]  

  • 35. Glycogen storage disease type III in Egyptian children: a single centre clinico-laboratory study.
    El-Karaksy H; Anwar G; El-Raziky M; Mogahed E; Fateen E; Gouda A; El-Mougy F; El-Hennawy A
    Arab J Gastroenterol; 2014 Jun; 15(2):63-7. PubMed ID: 25097048
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Glycogen Debrancher Enzyme Deficiency Myopathy.
    Sadeh M; Yosovich K; Dabby R
    J Clin Neuromuscul Dis; 2021 Jun; 22(4):224-227. PubMed ID: 34019008
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Neuromuscular involvement in glycogen storage disease type III.
    Moses SW; Gadoth N; Bashan N; Ben-David E; Slonim A; Wanderman KL
    Acta Paediatr Scand; 1986 Mar; 75(2):289-96. PubMed ID: 3457519
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Assignment of the human glycogen debrancher gene to chromosome 1p21.
    Yang-Feng TL; Zheng K; Yu J; Yang BZ; Chen YT; Kao FT
    Genomics; 1992 Aug; 13(4):931-4. PubMed ID: 1505983
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Different clinical aspects of debrancher deficiency myopathy.
    Kiechl S; Kohlendorfer U; Thaler C; Skladal D; Jaksch M; Obermaier-Kusser B; Willeit J
    J Neurol Neurosurg Psychiatry; 1999 Sep; 67(3):364-8. PubMed ID: 10449560
    [TBL] [Abstract][Full Text] [Related]  

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