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

Molecular Genetics and Metabolism - Tập 129 - Trang 186-192 - 2020
Annemiek M.J. van Wegberg1, Roeland A.F. Evers1, Esther van Dam1, Maaike C. de Vries2, Mirian C.H. Janssen3, M. Rebecca Heiner-Fokkema4, Francjan J. van Spronsen1
1Department of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Centre Groningen, the Netherlands
2Department of Paediatrics, Radboud University Medical Centre, Nijmegen, the Netherlands
3Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands
4Department of Laboratory Medicine, Laboratory of Metabolic Diseases, University of Groningen, University Medical Centre Groningen, the Netherlands

Tài liệu tham khảo

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