Performance of laboratory tests used to measure blood phenylalanine for the monitoring of patients with phenylketonuria-Reference-Cited by-同舟云学术

Performance of laboratory tests used to measure blood phenylalanine for the monitoring of patients with phenylketonuria

Published:2019-10-02 Issue:2 Volume:43 Page:179-188
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Moat Stuart J.¹²^ORCID,Schulenburg‐Brand Danja¹,Lemonde Hugh³,Bonham James R.⁴,Weykamp Cas W.⁵,Mei Joanne V.⁶,Shortland Graham S.⁷,Carling Rachel S.⁸⁹

Affiliation:

1. Department of Medical Biochemistry, Immunology & Toxicology University Hospital Wales Cardiff UK

2. School of Medicine Cardiff University, University Hospital Wales Cardiff UK

3. Paediatric Metabolic Medicine Evelina Children's Hospital, Guys & St Thomas' NHSFT London UK

4. Department of Clinical Chemistry Sheffield Children's (NHS) FT Sheffield UK

5. MCA Laboratory, Queen Beatrix Hospital Winterswijk The Netherlands

6. Newborn Screening and Molecular Biology Branch Centers for Disease Control and Prevention Atlanta Georgia

7. Department of Child Health University Hospital Wales Cardiff UK

8. Biochemical Sciences Viapath, Guys & St Thomas' NHSFT London UK

9. GKT School of Medical Education, King's College London UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12163

Reference46 articles.

1. Recommendations for the nutrition management of phenylalanine hydroxylase deficiency

2. Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria.

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

4. Phenylalanine hydroxylase deficiency: diagnosis and management guideline

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