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

Document Type

Article

Author

Václavík, Jan; Mádrová, Lucie; Kouřil, Štěpán; de Sousa, Julie; Brumarová, Radana; Janečková, Hana; Jáčová, Jaroslava; Friedecký, David; Knapková, Mária; Kluijtmans, Leo A. J.; Grünert, Sarah C.; Vaz, Frédéric M.; Janzen, Nils; Wanders, Ronald J. A.; Wevers, Ron A.; Adam, Tomáš

Source

Journal of Inherited Metabolic Disease Reports; Jul2020, Vol. 54 Issue 1, p79-86, 8p

Subject

Language

ISSN

21928312

Online Access

Full Text (ProQuest Central) Open Access (Wiley) Scopus Find it@PNU

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