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 *

192 related articles for article (PubMed ID: 2883891)

  • 21. 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]  

  • 22. Liver histology in children with glycogen storage disorders type VI and IX.
    Degrassi I; Deheragoda M; Creegen D; Mundy H; Mustafa A; Vara R; Hadzic N
    Dig Liver Dis; 2021 Jan; 53(1):86-93. PubMed ID: 32505569
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22.
    Willems PJ; Hendrickx J; Van der Auwera BJ; Vits L; Raeymaekers P; Coucke PJ; Van den Bergh I; Berger R; Smit GP; Van Broeckhoven C
    Genomics; 1991 Apr; 9(4):565-9. PubMed ID: 1674721
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). RNA and DNA analysis.
    Gautron S; Daegelen D; Mennecier F; Dubocq D; Kahn A; Dreyfus JC
    J Clin Invest; 1987 Jan; 79(1):275-81. PubMed ID: 3466902
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.
    Orho M; Bosshard NU; Buist NR; Gitzelmann R; Aynsley-Green A; Blümel P; Gannon MC; Nuttall FQ; Groop LC
    J Clin Invest; 1998 Aug; 102(3):507-15. PubMed ID: 9691087
    [TBL] [Abstract][Full Text] [Related]  

  • 26. High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11.
    Lebo RV; Gorin F; Fletterick RJ; Kao FT; Cheung MC; Bruce BD; Kan YW
    Science; 1984 Jul; 225(4657):57-9. PubMed ID: 6587566
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. [Genetic heterogeneity and the diagnosis of hepatic glycogenoses].
    Lemonnier A; Baussan C; Moatti N
    C R Seances Soc Biol Fil; 1984; 178(4):327-47. PubMed ID: 6241011
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Four restriction fragment length polymorphisms revealed by probes from a single cosmid map to chromosome 19.
    Bufton L; Bruns GA; Magenis RE; Tomar D; Shaw D; Brook D; Litt M
    Am J Hum Genet; 1986 Apr; 38(4):447-60. PubMed ID: 3010711
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Glycogen-storage disease in rats, a genetically determined deficiency of liver phosphorylase kinase.
    Malthus R; Clark DG; Watts C; Sneyd JG
    Biochem J; 1980 Apr; 188(1):99-106. PubMed ID: 6931596
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A minisatellite and a microsatellite polymorphism within 1.5 kb at the human muscle glycogen phosphorylase (PYGM) locus can be amplified by PCR and have combined informativeness of PIC 0.95.
    Iwasaki H; Stewart PW; Dilley WG; Holt MS; Steinbrueck TD; Wells SA; Donis-Keller H
    Genomics; 1992 May; 13(1):7-15. PubMed ID: 1349582
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Liver glycogenosis caused by a defective phosphorylase system: hemolysate analysis.
    Baussan C; Moatti N; Odievre M; Lemonnier A
    Pediatrics; 1981 Jan; 67(1):107-12. PubMed ID: 6787554
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Linkage analysis of multiple endocrine neoplasia type 1 with INT2 and other markers on chromosome 11.
    Bale SJ; Bale AE; Stewart K; Dachowski L; McBride OW; Glaser T; Green JE; Mulvihill JJ; Brandi ML; Sakaguchi K
    Genomics; 1989 Apr; 4(3):320-2. PubMed ID: 2565877
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Identification of more than 500 RFLPs by screening random genomic clones.
    Schumm JW; Knowlton RG; Braman JC; Barker DF; Botstein D; Akots G; Brown VA; Gravius TC; Helms C; Hsiao K
    Am J Hum Genet; 1988 Jan; 42(1):143-59. PubMed ID: 2892396
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Regional localization of loci on chromosome 14 using somatic cell hybrids.
    Billingsley GD; Cox DW; Duncan AM; Goodfellow PJ; Grzeschik KH
    Cytogenet Cell Genet; 1994; 66(1):33-8. PubMed ID: 8275705
    [TBL] [Abstract][Full Text] [Related]  

  • 36. The X chromosome shows less genetic variation at restriction sites than the autosomes.
    Hofker MH; Skraastad MI; Bergen AA; Wapenaar MC; Bakker E; Millington-Ward A; van Ommen GJ; Pearson PL
    Am J Hum Genet; 1986 Oct; 39(4):438-51. PubMed ID: 2876629
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene.
    Jagadisan B; Ranganath P
    Indian Pediatr; 2017 Sep; 54(9):775-776. PubMed ID: 28984260
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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;
    Genet Med; 2019 Apr; 21(4):772-789. PubMed ID: 30659246
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review.
    Zhan Q; Lv Z; Tang Q; Huang L; Chen X; Yang M; Lan L; Shan Q
    Medicine (Baltimore); 2021 Apr; 100(16):e25520. PubMed ID: 33879691
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Multiple, independent restriction site polymorphisms in human DNA detected with a cDNA probe to argininosuccinate synthetase (AS).
    Daiger SP; Hoffman NS; Wildin RS; Su TS
    Am J Hum Genet; 1984 Jul; 36(4):736-49. PubMed ID: 6089548
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.