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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: haliloglu g. 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.
L-2-hydroxyglutaric aciduria: a report of 29 patients.
Topçu M, Aydin OF, Yalçinkaya C, Haliloğlu G, Aysun S, Anlar B, Topaloğlu H, Turanli G, Yalnizoğlu D, Kesimer M, Coşkun T. Topçu M, et al. Among authors: haliloglu g. Turk J Pediatr. 2005 Jan-Mar;47(1):1-7. Turk J Pediatr. 2005. PMID: 15884621
Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria.
Haliloglu G, Temucin CM, Oguz KK, Celiker A, Coskun T, Sass JO, Fischer J, Topcu M. Haliloglu G, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S21-5. doi: 10.1007/s10545-009-0933-2. Epub 2009 Jan 26. J Inherit Metab Dis. 2009. PMID: 19169842
114 results