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4. Infantile and late onset form of generalised glycogenosis type II in cattle. Howell JM, Dorling PR, Cook RD, Robinson WF, Bradley S, Gawthorne JM. J Pathol; 1981 Aug; 134(4):267-77. PubMed ID: 7033492 [Abstract] [Full Text] [Related]
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9. Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts. Reuser AJ, Kroos M, Willemsen R, Swallow D, Tager JM, Galjaard H. J Clin Invest; 1987 Jun; 79(6):1689-99. PubMed ID: 3108320 [Abstract] [Full Text] [Related]
10. Genotyping glycogen storage disease type II and type V in cattle reared in the Czech Republic. Cítek J, Rehout V, Vecerek L, Hájková J. J Vet Med A Physiol Pathol Clin Med; 2007 Jun; 54(5):257-9. PubMed ID: 17523960 [Abstract] [Full Text] [Related]
11. Haemopoietic chimaerism: a complication in heterozygote detection tests for inherited defects in cattle. Healy PJ, Dennis JA, Nicholls PJ, Reichmann KG. Anim Genet; 1994 Feb; 25(1):1-6. PubMed ID: 8161014 [Abstract] [Full Text] [Related]
13. Evidence of molecular heterogeneity for generalised glycogenosis between and within breeds of cattle. Healy PJ, Nicholls PJ, Martiniuk F, Tzall S, Hirschhorn R, Howell JM. Aust Vet J; 1995 Aug; 72(8):309-11. PubMed ID: 8579563 [Abstract] [Full Text] [Related]
14. Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II. Chen CP, Lin SP, Tzen CY, Tsai FJ, Hwu WL, Wang W. Prenat Diagn; 2004 Mar; 24(3):231-2. PubMed ID: 15057961 [No Abstract] [Full Text] [Related]
15. Bovine glycogenosis type II: the molecular defect in Shorthorn cattle. Palmer DG, Dorling PR, Howell JM. Neuromuscul Disord; 1994 Jan; 4(1):39-48. PubMed ID: 8173350 [Abstract] [Full Text] [Related]
16. Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry. Hermans MM, Kroos MA, Smeitink JA, van der Ploeg AT, Kleijer WJ, Reuser AJ. Hum Mutat; 1998 Jan; 11(3):209-15. PubMed ID: 9521422 [Abstract] [Full Text] [Related]
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19. [Severe form of juvenile type II glycogenosis in a compound-heterozygous boy (Tyr-292--> Cys/Arg-854-->Stop)]. Castro-Gago M, Eirís-Puñal J, Rodríguez-Núñez A, Pintos-Martínez E, Benlloch-Marín T, Barros-Angueira F. Rev Neurol; 1997 Jun 09; 29(1):46-9. PubMed ID: 10528311 [Abstract] [Full Text] [Related]