Results 121 to 130 of about 7,455 (171)

Neurological deterioration in young adults with phenylketonuria

, 1990
RichardJ. Allen
openalex   +1 more source

Diffusivity alterations related to cognitive performance and phenylalanine levels in early-treated adults with phenylketonuria. [PDF]

J Neurodev Disord
Pardo J, Capdevila-Lacasa C, Segura B, Pané A, Moreno PJ, Garrabou G, Grau-Junyent JM, Junqué C, Consortium PKU.cat.   +8 more
europepmc   +1 more source

Children and Adolescents with Early Treated Phenylketonuria: Cognitive Development and Fluctuations of Blood Phenylalanine Levels. [PDF]

Int J Environ Res Public Health
Feldmann R, Och U, Beckmann LS, Weglage J, Rutsch F.   +4 more
europepmc   +1 more source

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China. [PDF]

PeerJ
Zhu J, Han L, Yang P, Feng Z, Xue S.
europepmc   +1 more source

Leveraging Cognitive and Speech Ecological Momentary Assessment in Individuals With Phenylketonuria: Development and Usability Study of Cognitive Fluctuations in a Rare Disease Population. [PDF]

JMIR Form Res
Singh S, Kluen L, Curtis K, Norel R, Agurto C, Grinspoon E, Hawks Z, Christ S, Waisbren S, Cecchi G, Germine L.   +10 more
europepmc   +1 more source

Breastfeeding in PKU and Other Amino Acid Metabolism Disorders-A Single Centre Experience. [PDF]

Nutrients
Kowalik A, Gudej-Rosa S, Nogalska M, Myszkowska-Ryciak J, Sykut-Cegielska J.   +4 more
europepmc   +1 more source

Comparison of Cost Analysis in Patients with Tetrahydrobiopterin-Responsive and Non-Responsive Phenylketonuria in Turkey. [PDF]

Nutrients
Karaca Sahin M, Aktuglu Zeybek AC, Zubarioglu T, Cansever MS, Kıykım E.   +4 more
europepmc   +1 more source

GluN2B suppression restores phenylalanine-induced neuroplasticity and cognition impairments in a mouse model of phenylketonuria. [PDF]

J Clin Invest
Song WS, Kim YS, Bae YS, Yoon SH, Lim JM, Kim MH.   +5 more
europepmc   +1 more source

Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up. [PDF]

Nutrients
Consentino MC, La Spina L, Meli C, Messina M, Lo Bianco M, Sapuppo A, Pappalardo MG, Iacobacci R, Arena A, Vecchio M, Ruggieri M, Polizzi A, Praticò AD.   +12 more
europepmc   +1 more source

Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an l-amino acid-based product. [PDF]

J Inherit Metab Dis
Turki A, Stockler-Ipsiroglu S, Sirrs S, Branov J, Bosdet T, Elango R.   +5 more
europepmc   +1 more source