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Biallelic mutations in PIGP cause developmental and epileptic encephalopathy.
Krenn M, Knaus A, Westphal DS, Wortmann SB, Polster T, Woermann FG, Karenfort M, Mayatepek E, Meitinger T, Wagner M, Distelmaier F. Krenn M, et al. Among authors: mayatepek e. Ann Clin Transl Neurol. 2019 Apr 11;6(5):968-973. doi: 10.1002/acn3.768. eCollection 2019 May. Ann Clin Transl Neurol. 2019. PMID: 31139695 Free PMC article.
Lack of creatine in muscle and brain in an adult with GAMT deficiency.
Schulze A, Bachert P, Schlemmer H, Harting I, Polster T, Salomons GS, Verhoeven NM, Jakobs C, Fowler B, Hoffmann GF, Mayatepek E. Schulze A, et al. Among authors: mayatepek e. Ann Neurol. 2003 Feb;53(2):248-51. doi: 10.1002/ana.10455. Ann Neurol. 2003. PMID: 12557293
Status epilepticus due to attempted suicide with isoniazid.
Tibussek D, Mayatepek E, Distelmaier F, Rosenbaum T. Tibussek D, et al. Among authors: mayatepek e. Eur J Pediatr. 2006 Feb;165(2):136-7. doi: 10.1007/s00431-005-0007-x. Epub 2005 Oct 7. Eur J Pediatr. 2006. PMID: 16211398 No abstract available.
Cystic renal dysplasia as a leading sign of inherited metabolic disease.
Distelmaier F, Vogel M, Spiekerkötter U, Gempel K, Klee D, Braunstein S, Groneck HP, Mayatepek E, Wendel U, Schwahn B. Distelmaier F, et al. Among authors: mayatepek e. Pediatr Nephrol. 2007 Dec;22(12):2119-24. doi: 10.1007/s00467-007-0536-9. Epub 2007 Jul 19. Pediatr Nephrol. 2007. PMID: 17638024
443 results