Does the 48-hour BH4 loading test miss responsive PKU...

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Does the 48-hour BH4 loading test miss responsive PKU patients?

van Wegberg, A.M.J., Evers, R.A.F., van Dam, E., de Vries, M.C., Janssen, M.C.H., Heiner-Fokkema, M.R., van Spronsen, F.J.
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Journal:
Molecular Genetics and Metabolism
DOI:
10.1016/j.ymgme.2019.12.011
Date:
December, 2019
File:
PDF, 887 KB
2019
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