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

  • Published:2020-03 Issue:3 Volume:129 Page:186-192
  • ISSN:1096-7192
  • Container-title:Molecular Genetics and Metabolism
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism

Author:

van Wegberg Annemiek M.J.,Evers Roeland A.F.,van Dam Esther,de Vries Maaike C.,Janssen Mirian C.H.,Heiner-Fokkema M. Rebecca,van Spronsen Francjan J.

Funder

BioMarin Pharmaceuticals

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference21 articles.

1. Phenylketonuria;Blau;Lancet,2010

2. A systematic review of BH4 (Sapropterin) for the adjuvant treatment of phenylketonuria;Lindegren;JIMD Rep.,2013

3. Sapropterin dihydrochloride for phenylketonuria;Somaraju;Cochrane Database Syst. Rev.,2015

4. Key European guidelines for the diagnosis and management of patients with phenylketonuria;van Spronsen;Lancet Diabetes Endocrinol.,2017

5. The complete European guidelines on phenylketonuria: diagnosis and treatment;van Wegberg;Orphanet J. Rare Dis.,2017
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