The first Czech patient with aminoacylase I deficiency

Česká verzia

Authors: D. Procházková ^1,2; R. Borská ³; P. Chrastina ⁴; L. Fajkusová ^1,2; P. Konečná ¹; K. Slabá ¹; J. Šenkyřík ⁵; K. Pešková ⁴; P. Jabandžiev ¹; T. Honzík ⁴
Authors place of work: Pediatrická klinika LF MU a FN Brno ¹; Ústav lékařské genetiky a genomiky, LF MU a FN Brno ²; Interní hemato-onkologická klinika, Centrum molekulární biologie a genetiky, LF MU a FN Brno ³; Klinika pediatrie a dědičných poruch metabolizmu 1. LF UK a VFN v Praze ⁴; Klinika dětské radiologie LF MU a FN Brno ⁵
Published in the journal: Cesk Slov Neurol N 2023; 86(1): 83-85
Category: Letter to Editor
doi: https://doi.org/10.48095/cccsnn202383

Zdroje

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2. Sass JO, Mohr V, Olbrich H et al. Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. Am J Hum Genet 2006; 78 (3): 401–409. doi: 10.1086/500563.

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