Journal article Published 2020

A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Jan Václavík, Lucie Mádrová, Štěpán Kouřil, J. de Sousa, Radana Brumarová, Hana Janečková, Jaroslava Friedecká, David Friedecký, M. Knapkova, L.A.J. Kluijtmans, S.C. Grunert, F.M. Vaz, N. Janzen, R.J.A. Wanders, R.A. Wevers,

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Tomáš Adam

JMID reports 54(1), 79-86 (2020)

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2020 Year

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VÁCLAVÍK, J., L. MÁDROVÁ, Š. KOUŘIL, J. DE SOUSA, R. BRUMAROVÁ, H. JANEČKOVÁ, J. FRIEDECKÁ, D. FRIEDECKÝ, M. KNAPKOVA, L. KLUIJTMANS, S. GRUNERT, F. VAZ, N. JANZEN, R. WANDERS, R. WEVERS, T. ADAM: A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. JMID reports. 2020, 54(1), 79-86, ISSN: 2192-8312.

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ISSN: 2192-8312

Authors from EATRIS

Štěpán Kouřil
Tomáš Adam