Results 121 to 130 of about 11,515 (196)

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

Nutritional knowledge of the phenylketonuria diet among healthcare providers in Saudi Arabia. [PDF]

Saudi Med J
Alghamdi NA, Naaman RK.
europepmc   +1 more source

Identification of an extraction protocol from dried blood spots for untargeted metabolomics: application to phenylketonuria. [PDF]

Metabolomics
Vézirian S, Cunin V, Dias C, Le Gouellec A, Faure P, Toussaint B, Corne C, Plazy C.   +7 more
europepmc   +1 more source

Long-Term Safety and Efficacy of Pegvaliase in Japanese Adults With Phenylketonuria: Final Results of a Phase III Trial. [PDF]

JIMD Rep
Nakajima Y, Ishige M, Ito T, Hamazaki T, Kuwahara M, Lee L, Shintaku H.   +6 more
europepmc   +1 more source

Clinical assessment of growth patterns, weight, and dietary management in children and adults with phenylketonuria - a retrospective study. [PDF]

Orphanet J Rare Dis
Bahtiri L, Jørgensen C, Ahring K, Rasmussen H, Hermansen JM, Fjellbirkeland OW, Lund AM, Ørngreen MC.   +7 more
europepmc   +1 more source

Brain Age in Adult Patients With Early-Treated Phenylketonuria. [PDF]

J Inherit Metab Dis
Winiger L, Muri R, Kaufmann T, Hochuli M, Vardy E, Radojewski P, Pospieszny K, Trepp R, Everts R.   +8 more
europepmc   +1 more source

The status of newborn screening in Africa: Situation analysis, future plans and call to action. [PDF]

Afr J Lab Med
Satekge T, Okesina A, Anetor J, Erasmus R.   +3 more
europepmc   +1 more source

<i>In vivo</i> adenine base editing rescues brain biochemistry and improves motor deficits in a common phenylketonuria variant. [PDF]

Mol Ther Adv
Gautier MK, King K, Han Y, Said H, Alameh MG, Wang X, Hong X, Musunuru K, Ahrens-Nicklas RC.   +8 more
europepmc   +1 more source