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Page 1
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Araújo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, Mackenzie J, Maranda B, Mhanni AA, Mitchell G, Morris A, Newlove T, Renaud D, Scaglia F, Valayannopoulos V, van Spronsen FJ, Verbruggen KT, Yuskiv N, Nyhan W, Schulze A. Stockler-Ipsiroglu S, et al. Among authors: barshop b. Mol Genet Metab. 2014 Jan;111(1):16-25. doi: 10.1016/j.ymgme.2013.10.018. Epub 2013 Nov 7. Mol Genet Metab. 2014. PMID: 24268530 Free article.
Duplication of 16q and deletion of 15q.
Nyhan WL, Mascarello J, Barshop B, Doroski D, Hirschhorn K. Nyhan WL, et al. Among authors: barshop b. Am J Med Genet. 1989 Oct;34(2):183-6. doi: 10.1002/ajmg.1320340210. Am J Med Genet. 1989. PMID: 2816995
Treatment of Lesch-Nyhan syndrome with AICAR.
Page T, Barshop B, Yu AL, Nyhan WL. Page T, et al. Among authors: barshop b. Adv Exp Med Biol. 1994;370:353-6. doi: 10.1007/978-1-4615-2584-4_76. Adv Exp Med Biol. 1994. PMID: 7660927 No abstract available.
Treatment of the acute crisis in maple syrup urine disease.
Nyhan WL, Rice-Kelts M, Klein J, Barshop BA. Nyhan WL, et al. Among authors: barshop ba. Arch Pediatr Adolesc Med. 1998 Jun;152(6):593-8. doi: 10.1001/archpedi.152.6.593. Arch Pediatr Adolesc Med. 1998. PMID: 9641714
Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria.
Barshop BA, Nyhan WL, Naviaux RK, McGowan KA, Friedlander M, Haas RH. Barshop BA, et al. Mol Genet Metab. 2000 Jan;69(1):64-8. doi: 10.1006/mgme.1999.2946. Mol Genet Metab. 2000. PMID: 10655159
105 results