Results 171 to 180 of about 18,327 (286)

Adherence to clinic recommendations among patients with phenylketonuria in the United States.

Molecular Genetics and Metabolism, 2017
E. Jurecki, S. Cederbaum, J. Kopesky, K. Perry, F. Rohr, Amarilis Sanchez-Valle, K. Viau, M. Y. Sheinin, J. Cohen-Pfeffer   +8 more
semanticscholar   +1 more source

Screening newborns for inborn errors of metabolism by tandem mass spectrometry.

New England Journal of Medicine, 2003
B. Wilcken, V. Wiley, J. Hammond, K. Carpenter   +3 more
semanticscholar   +1 more source

The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China. [PDF]

Orphanet J Rare Dis
Wang Q, Duan J, Zhao X, Qi Z.
europepmc   +1 more source

Assesment of pathogenic variants in the PAH gene and genotype-phenotype correlation in Phenylketonuria patients from Turkey. [PDF]

Özgür Balasar, Banu Kadıoğlu Yılmaz, Müşerref BAŞDEMİRCİ, Hatice Koçak Eker, Büşra ESER ÇAVDARTEPE, Levent Şi̇mşek, Ebru Tunçez, Fahrettin Duymus   +7 more
openalex   +1 more source

Effects of commencing sapropterin therapy on quality of life for children with phenylketonuria and their families: a qualitative interview study

Amy E. Mitchell, Alina Morawska, Evren Etel, Japheth Adina, Catherine Atthow, Sally Smith, Janette Spicer, Carolyn Bursle, Aoife Elliott, Simon O’Neill, Anita Inwood   +10 more
openalex   +1 more source

The effect of the nitrogen source on metabolism in Phenylketonuria [PDF]

, 2021
Maria João Rodrigues Carvalho Pena
core  

Atypical Phenylketonuria: An Approach to Diagnosis and Management [PDF]

, 1970
John S. Yu, S. J. Stuckey, Mary O'Halloran   +2 more
openalex   +1 more source

Impact of gut probiotic metabolites on phenylketonuria. [PDF]

Front Cell Infect Microbiol
Kalla Veedu A, Vijayakumar S, Joseph HA, Thomas J.   +3 more
europepmc   +1 more source

739 TRANSIENT BIOPTERIN SYNTHETASE DEFICIENCY IN A NEW-BORN WITH PHENYLKETONURIA [PDF]

, 1981
Reuben Matalon, K. Michals, Chinq-Lun Lee, J. C. Nixon   +3 more
openalex   +1 more source

Nutritional profiling of foods for Phenylketonuria. [PDF]

Sci Rep
Lubina O, Daly A, Auzenbaha M, Gailite L, Laktina S, Macdonald A.   +5 more
europepmc   +1 more source