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pro vyhledávání: '"Meabh O'Shea"'
Autor:
Lydia Healy, Meabh O'Shea, Jennifer McNulty, Graham King, Eilish Twomey, Eileen Treacy, Ellen Crushell, Joanne Hughes, Ina Knerr, Ahmad Ardeshir Monavari
Publikováno v:
JIMD Reports, Vol 63, Iss 4, Pp 379-387 (2022)
Abstract Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder that can lead to encephalopathic crises and severe dystonic movement disorders. Adherence to strict dietary restriction, in particular a diet low in lysine, carnitine supplemen
Externí odkaz:
https://doaj.org/article/41283cc617d748ea87a04269a9e3540c
