Results 81 to 90 of about 69,044 (178)

A multicenter study on clinico-epidemiological profile of phenylketonuria in Egyptian children. [PDF]

Sci Rep
Yahia S, El-Gilany AH, Magdy RM, Bebars GM, Fadle YS, Dawoud H, ELfeil NS, Moussa MM, Assy R, Sadek AA, Abdelmoneim Z.   +10 more
europepmc   +1 more source

Positive Impact of Breastfeeding on Nutritional Status and Metabolic Control in Infants with PKU: A Retrospective Study. [PDF]

Nutrients
López-Mejía L, Guillén-López S, Vela-Amieva M, Fernández-Lainez C, Castro-Monroy L.   +4 more
europepmc   +1 more source

Correction: Donnelly et al. A Case of <i>DNAJC12</i>-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection. <i>Int. J. Neonatal Screen.</i> 2024, <i>10</i>, 7. [PDF]

Int J Neonatal Screen
Donnelly C, Estrella L, Ginevic I, Ganesh J.   +3 more
europepmc   +1 more source

Phenylketonuria Alters the Prefrontal Cortex Genome-Wide Expression Profile Regardless of the Mouse Genetic Background. [PDF]

Cells
Fiori E, Guzzo SM, Lo Iacono L, Orsini C, Cabib S, Andolina D, Rossi L, Nardecchia F, Leuzzi V, Pascucci T.   +9 more
europepmc   +1 more source

Concurrent phenylketonuria and immune-mediated central nervous system involvement: a case report highlighting rare co-occurrence. [PDF]

BMC Neurol
Zhao J, Yan H, Li Z, Wang X, Wang Y, Zhang X.   +5 more
europepmc   +1 more source

Exploring Subpopulations for Epidemiological Precision Nutrition Research: The Example of <i>Phenylalanine Hydroxylase (PAH)</i> Genetic Variation. [PDF]

Nutrients
Dhawan A, Khan SM, Fennell ML, Cho CE, Monk JM, Keathley JR.   +5 more
europepmc   +1 more source

Pediatric phenylketonuria and the eye: Unveiling subclinical anterior segment changes. [PDF]

Indian J Ophthalmol
Seyyar SA, Soysal GG, Hopurcuoğlu D.
europepmc   +1 more source

A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics. [PDF]

Orphanet J Rare Dis
Balci MC, Kor D, Yildiz Y, Karaca M, Bulut FD, Kahraman AB, Yesil A, Burgac E, Ciki K, Selamioglu A, Koseci B, Durmus A, Kaplan I, Kara E, Mungan HN, Sivri S, Gokcay GF, Tokatli A, Demirkol M, Coskun T, Ozalp I.   +20 more
europepmc   +1 more source

Advancing Gene Therapy for Phenylketonuria: From Precision Editing to Clinical Translation. [PDF]

Int J Mol Sci
Yu I, Jeong J.
europepmc   +1 more source

Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study. [PDF]

JIMD Rep
Yuskiv N, Saad A, Potter BK, Stockler-Ipsiroglu S, Mitchell JJ, Hawken S, Tingley K, Pugliese M, Lamoureux M, Chow AJ, Kronick JB, Wilson K, Feigenbaum A, Goobie S, Inbar-Feigenberg M, Little J, Mercimek-Andrews S, Pender A, Prasad C, Schulze A, Trakadis Y, Ho G, Vallance H, Austin V, Vandersteen A, Yu AC, Rockman-Greenberg C, Mhanni AA, Chakraborty P.   +28 more
europepmc   +1 more source