Barshop B - Search Results

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.

2

3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism.

Ko FJ, Nyhan WL, Wolff J, Barshop B, Sweetman L. Ko FJ, et al. Among authors: barshop b. Pediatr Res. 1991 Oct;30(4):322-6. doi: 10.1203/00006450-199110000-00006. Pediatr Res. 1991. PMID: 1956714

3

Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin.

Barshop BA, Wolff J, Nyhan WL, Yu A, Prodanos C, Jones G, Sweetman L, Leslie J, Holm J, Green R, et al. Barshop BA, et al. Am J Med Genet. 1990 Feb;35(2):222-8. doi: 10.1002/ajmg.1320350216. Am J Med Genet. 1990. PMID: 2309761

4

Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations.

Press GA, Barshop BA, Haas RH, Nyhan WL, Glass RF, Hesselink JR. Press GA, et al. Among authors: barshop ba. AJNR Am J Neuroradiol. 1989 Mar-Apr;10(2):315-21. AJNR Am J Neuroradiol. 1989. PMID: 2494850 Free PMC article.

5

Excretion of hippuric acid during sodium benzoate therapy in patients with hyperglycinaemia or hyperammonaemia.

Barshop BA, Breuer J, Holm J, Leslie J, Nyhan WL. Barshop BA, et al. J Inherit Metab Dis. 1989;12(1):72-9. doi: 10.1007/BF01805533. J Inherit Metab Dis. 1989. PMID: 2501586

6

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

7

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.

8

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

9

Analysis of organic acids, amino acids, and carnitine in dogs with lipid storage myopathy.

Shelton GD, Nyhan WL, Kass PH, Barshop BA, Haas RH. Shelton GD, et al. Among authors: barshop ba. Muscle Nerve. 1998 Sep;21(9):1202-5. doi: 10.1002/(sici)1097-4598(199809)21:9<1202::aid-mus13>3.0.co;2-t. Muscle Nerve. 1998. PMID: 9703448

10

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

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