Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation-Reference-Cited by-同舟云学术

Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation

Published:2020-11-22 Issue:1 Volume:58 Page:70-79
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Coene Karlien L. M.¹^ORCID,Timmer Corrie²^ORCID,Goorden Susan M. I.³,Hoedt Amber E.⁴,Kluijtmans Leo A. J.¹,Janssen Mirian C. H.⁵,Rennings Alexander J. M.⁵,Prinsen Hubertus C. M. T.⁶,Wamelink Mirjam M. C.⁷,Ruijter George J. G.⁸,Körver‐Keularts Irene M. L. W.⁹,Heiner‐Fokkema M. Rebecca¹⁰,Spronsen Francjan J.¹¹,Hollak Carla E.²,Vaz Frédéric M.³,Bosch Annet M.⁴,Huigen Marleen C. D. G.¹

Affiliation:

1. Translational Metabolic Laboratory, Department of Laboratory Medicine Radboud University Medical Centre Nijmegen The Netherlands

2. Department Endocrinology and Metabolism Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands

3. Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands

4. Department of Paediatrics, Division of Metabolic Disorders Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands

5. Department of Internal Medicine Radboud University Medical Centre Nijmegen The Netherlands

6. Section Metabolic Diagnostics, Department of Genetics UMC Utrecht Utrecht The Netherlands

7. Metabolic Laboratory, Department of Clinical Chemistry Amsterdam UMC, Vrije Universiteit Amsterdam Amsterdam The Netherlands

8. Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics Erasmus MC Rotterdam The Netherlands

9. Laboratory of Biochemical Genetics, Department of Clinical Genetics Maastricht University Medical Centre Maastricht The Netherlands

10. Laboratory of Metabolic Diseases University of Groningen, University Medical Center Groningen Groningen The Netherlands

11. Division of Metabolic Diseases Beatrix Children's Hospital, University Medical Centre Groningen Groningen The Netherlands

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12186

Reference16 articles.

1. Phenylketonuria

2. The neurological and psychological phenotype of adult patients with early‐treated phenylketonuria: A systematic review

3. Phenylalanine blood levels and clinical outcomes in phenylketonuria: A systematic literature review and meta-analysis

4. Key European guidelines for the diagnosis and management of patients with phenylketonuria

5. The complete European guidelines on phenylketonuria: diagnosis and treatment

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