A newborn screening approach to diagnose...

JIMD Reports 2020 / 07 Vol. 54; Iss. 1

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

Václavík, Jan, Mádrová, Lucie, Kouřil, Štěpán, de Sousa, Julie, Brumarová, Radana, Janečková, Hana, Jáčová, Jaroslava, Friedecký, David, Knapková, Mária, Kluijtmans, Leo A. J., Grüne
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Volume:
54
Journal:
JIMD Reports
DOI:
10.1002/jmd2.12118
Date:
July, 2020
File:
PDF, 1.35 MB
2020
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