Fol. Biol. 2019, 65, 152-157

https://doi.org/10.14712/fb2019065030152

Metabolic Tools for Identification of New Mutations of Enzymes Engaged in Purine Synthesis Leading to Neurological Impairment

M. Krijt, O. Souckova, V. Baresova, V. Skopova, Marie Zikanova

Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic

Received May 2019
Accepted June 2019

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ISSN 0015-5500 (Print) ISSN 2533-7602 (Online)

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