Phenylalanine hydroxylase deficiency: diagnosis and management guideline

By J. Vockley, H. Andersson, K. Antshel, N. Braverman, B. Burton, D. Frazier, John J. Mitchell, Wendy E Smith, B. H. Thompson, S. Berry. Genetics in Medicine, 2013

641 citations recorded by the source corpus.

Subfields: Clinical Biochemistry, Endocrinology, Diabetes and Metabolism, Rheumatology

View Paper: https://www.semanticscholar.org/paper/51a65c1ae89cadd9bcb815de46535b2c32298a18

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

1. A. Macdonald
2. V. Leuzzi
3. S. Huijbregts
4. M. Rijn
5. A. V. Wegberg
6. N. Blau
7. F. Maillot
8. A. Bosch

Citations in the corpus

• The complete European guidelines on phenylketonuria: diagnosis and treatment (2017, background): “The evidence, as strong or weak as it is, indicates 600 μmol/l as the upper target level, while no study could be found to support an upper target blood Phe level of 360 μmol/ [102].”