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

Document Type

Article

Author

Václavík, J.; Mádrová, L.; Kouřil, Š.; de Sousa, J.; Brumarová, R.; Janečková, H.; Jáčová, J.; Friedecký, D.; Adam, T.; Knapková, M.; Kluijtmans, L.A.J.; Wevers, R.A.; Grünert, S.C.; Vaz, F.M.; Wanders, R.J.A.; Janzen, N.

Source

(JIMD Reports, 1 January 2020, 54(1):79-86)

Subject

Language

English

ISSN

21928312
21928304

Online Access

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

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