Results 151 to 160 of about 18,136 (230)

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

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

Culturable gut bacteria lack Escherichia coli in children with phenylketonuria

, 2019
Walid Al-Zyoud, Abedelmajeed Nasereddin, H. Aljarajrah, Munib Saket   +3 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

Supplementation for Performance and Health in Patients with Phenylketonuria: An Exercise-Based Approach to Improving Dietary Adherence [PDF]

Domingo González‐Lamuño, Carmenmelina Morencos, Francisco Arrieta, Eva Venegas, Germán Vicente‐Rodríguez, José A. Casajús, María L. Couce, Luis Aldámiz‐Echevarría   +7 more
openalex   +1 more source

Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype [PDF]

, 2013
Karen Anjema, Margreet van Rijn, Floris C. Hofstede, Annet M. Bosch, Carla E. M. Hollak, M. Estela Rubio‐Gozalbo, Maaike C. de Vries, Mirian C. H. Janssen, C Boelen, Johannes G. M. Burgerhof, Nenad Blau, M Heiner-Fokkema, Francjan J. van Spronsen   +12 more
openalex   +1 more source

Performance of the Egoo test for phenylalanine measurement in females with phenylketonuria. [PDF]

Orphanet J Rare Dis
Schoen MS, Nath SV, Singh RH.
europepmc   +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

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

Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency. [PDF]

Orphanet J Rare Dis, 2023
Hsu RH, Lee NC, Chen HA, Hwu WL, Chang TM, Chien YH.   +5 more
europepmc   +1 more source

Combination of lipoatrophic diabetes mellitus with systemic scleroderma and phenylketonuria

, 2017
Г. Н. Светлова, Тамара Леонидовна Кураева, Dmitriy L. Alekseev, Valentina Peterkova   +3 more
openalex   +2 more sources