Rapid genome sequencing clarifies the cause of severe neonatal hyper-CKemia in an infant at genetic risk for VLCAD deficiency.

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Bibliographic Details
Title: Rapid genome sequencing clarifies the cause of severe neonatal hyper-CKemia in an infant at genetic risk for VLCAD deficiency.
Authors: Merdler-Rabinowicz, Rona1 (AUTHOR), Jacob, Neil1 (AUTHOR), Breilyn, Margo1 (AUTHOR), Morava, Eva1 (AUTHOR), Ganesh, Jaya1 (AUTHOR)
Source: Molecular Genetics & Metabolism. May2026, Vol. 148 Issue 1, pN.PAG-N.PAG. 1p.
Database: Academic Search Ultimate
Description
ISSN:10967192
DOI:10.1016/j.ymgme.2026.110043