Results 161 to 170 of about 7,599 (237)

Primapterinuria: A Clinical Update [PDF]

, 2017
Blaskovics, M. E., Blau, N., Giudici, T. A.   +2 more
core  

Executive Functions and Long-Term Metabolic Control in Adults with Phenylketonuria (PKU). [PDF]

Metabolites
Tomm A, Thiele AG, Rohde C, Schlögl H, Kiess W, Beblo S.   +5 more
europepmc   +1 more source

Hepatocyte Transplantation Transforms Severe Phenylketonuria to Mild Hyperphenylalaninemia

, 2011
Françoise Smets, Xavier Stéphenne, Guillaume Debray, Renaud Menten, Raymond Reding, Mustapha Najimi, Étienne Sokal   +6 more
openalex   +1 more source

Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene. [PDF]

Int J Mol Sci
Tebieva IS, Mishakova PV, Gabisova YV, Khokhova AV, Kaloeva TG, Marakhonov AV, Shchagina OA, Polyakov AV, Ginter EK, Kutsev SI, Zinchenko RA.   +10 more
europepmc   +1 more source

P030: Update from PHEFREE: The National Institutes of Health Rare Disease Consortium for Hyperphenylalaninemia

Georgianne L. Arnold, Hadley Morotti, Gerard T. Berry, Shawn E. Christ, Dorothy K. Grange, Cary O. Harding, Elaina Jurecki, Uta Lichter‐Konecki, Harvey L. Levy, Nicola Longo, Stephanie Sacharow, Brian J. Shayota, Janet A. Thomas, Desirée A. White   +13 more
openalex   +1 more source

Clinical Profiles of Hyperphenylalaninemia Patients Diagnosed by Newborn Screening

, 2011
April Grace Dion-Berboso, Mary Ann R. Abacan, Mary Anne D. Chiong   +2 more
openalex   +2 more sources

Human Liver Pterin 4 a-Carbinolamine Dehydratase. Purification and Characterization [PDF]

, 2017
Adler, C., Curtius, H.-Ch, Herrmann, F. H., Petruschka, L., Rebrin, I.   +4 more
core  

Phenotypic study of humanized mice carrying the PAH deep intronic variant c.1199+502A>T. [PDF]

Orphanet J Rare Dis
Zhang C, Yan Y, Zhou B, Gao H, Jin X, Hui L, Hao S, Cao Z, Ma X.   +8 more
europepmc   +1 more source

P025: Newborn screening predicts phenotype conversion and developmental outcome in hyperphenylalaninemia

Anna Williams, Kristian Divin, Lindsay C. Burrage, Fernando Scaglia, William Craigen, V. Reid Sutton, Claudia Soler‐Alfonso, Kevin E. Glinton, Ronit Marom   +8 more
openalex   +1 more source

International Survey on Phenylketonuria Newborn Screening. [PDF]

Int J Neonatal Screen
Trampuž D, Schielen PCJI, Zetterström RH, Scarpa M, Feillet F, Kožich V, Tangeraas T, Drole Torkar A, Mlinarič M, Perko D, Remec ŽI, Lampret BR, Battelino T, Isns Study Group On Pku, van Spronsen FJ, Bonham JR, Grošelj U.   +16 more
europepmc   +1 more source