Results 131 to 140 of about 68,473 (259)

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

No Association Between Phenylketonuria or Hyperphenylalaninemia and Type 1 Diabetes: Insights From the German DPV Registry [PDF]

Svenja Meyhöfer, Johanna Hammersen, Stefanie Schmid, Semik Khodaverdi, Roschan Salimi Dafsari, Karl Otfried-Schwab, Matthias Papsch, Susanne Bechtold‐Dalla Pozza, Sebastian M. Meyhöfer, Reinhard W. Holl, Nicole Prinz, DPV Initiative   +11 more
openalex   +1 more source

Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies [PDF]

, 2011
Babette W Prick, Wim C.J. Hop, Johannes J. Duvekot   +2 more
openalex   +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

Neuropsychological assessment among children and adolescents with phenylketonuria and hyperphenylalaninemia and its relationship with plasma phenylalanine levels

, 2017
Maitane García, Pablo Antonio Conde-Guzón, Carlos Alcalde Martín, María J. Conde-Guzón, Roberto Velasco   +4 more
openalex   +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

Different Strategies In the Treatment of Dihydropteridine Reductase Deficiency [PDF]

, 2017
Blau, N., de Sanctis, L., Ferraris, S., Ferrero, G. B., Meli, C., Ponzone, A., Spada, M.   +6 more
core  

Mild hyperphenylalaninemia [PDF]

, 2020
openaire   +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

Isolation of 6-Pyruvoyl-tetrahydropterin Synthase cDNAs from Human Brain [PDF]

, 2017
Blau, Nenad, Heizmann, Claus W., Kluge, Claudia, Leimbacher, Walter, Thöny, Beat   +4 more
core