Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening
- Alfardan, Jaffar
- Mohsen, Al-Walid
- Copeland, Sara
- Ellison, Jay
- Keppen-Davis, Laura
- Rohrbach, Marianne
- Powell, Berkley R.
- Gillis, Jane
- Matern, Dietrich
- Kant, Jeffrey
- Vockley, Jerry
Published in:
- Molecular Genetics and Metabolism. - Elsevier BV. - 2010, vol. 100, no. 4, p. 333-338
- Language
-
- English
- Open access status
- green
- Identifiers
-
- DOI 10.1016/j.ymgme.2010.04.014
- ISSN 1096-7192
- Persistent URL
- https://folia.unifr.ch/global/documents/225616
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