Rapid genome sequencing clarifies the cause of severe neonatal hyper-CKemia in an infant at genetic risk for VLCAD deficiency.
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| Title: | Rapid genome sequencing clarifies the cause of severe neonatal hyper-CKemia in an infant at genetic risk for VLCAD deficiency. |
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| 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 |
| ISSN: | 10967192 |
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| DOI: | 10.1016/j.ymgme.2026.110043 |