Results 201 to 210 of about 32,659 (306)

Detection of Hepatic Phenylalanine 4-Hydroxylase in Classical Phenylketonuria

, 1973
Paul A. Friedman, Daniel B. Fisher, Ellen S. Kang, Seymour Kaufman   +3 more
openalex   +1 more source

Survey of information resources on newborn blood spot screening for parents and health professionals: a systematic review [PDF]

, 2005
Hargreaves, Katrina, Oliver, Sandy, Stewart, Ruth   +2 more
core   +1 more source

Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria.

Molecular Genetics and Metabolism, 2018
B. Burton, K. Jones, S. Cederbaum, F. Rohr, S. Waisbren, D. Irwin, Gilwan Kim, Joshua Lilienstein, I. Alvarez, E. Jurecki, H. Levy   +10 more
semanticscholar   +1 more source

Sapropterin Dihydrochloride Responsiveness in Phenylketonuria: A Case Series Exploring Gaps in Comprehensive Patient Monitoring. [PDF]

Nutrients
Lo Bianco M, Leonardi R, Migliore A, Moliteo E, Sciacca M, Rinella S, Pappalardo MG, La Spina L, Messina M, Iacobacci R, Ruggieri M, Meli C, Polizzi A.   +12 more
europepmc   +1 more source

Net protein utilization determined by rat bioassay of a protein hydrolysate and a diet for children with phenylketonuria [PDF]

, 1985
E Kindt, Halvor Holm, S Halvorsen, Sverre O. Lie   +3 more
openalex   +1 more source

Neurological manifestations in an adult with phenylketonuria. [PDF]

Arch Med Sci
Sochań P, Białobrzewski M, Sochań PJ, Domitrz I.   +3 more
europepmc   +1 more source

Arginase deficiency and phenylketonuria. [PDF]

, 1986
Paul Cutler
openalex   +1 more source

The influence of menstrual cycle on metabolic control and diet in patients with phenylketonuria. [PDF]

Orphanet J Rare Dis
Horka L, Landolt K, Erlic Z, Rimann N, Cremonesi A, Hochuli M, Beuschlein F.   +6 more
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

Evaluating the quality and reliability of YouTube videos about phenylketonuria. [PDF]

Medicine (Baltimore)
Kulu B, Uyar SBŞ, Kulu B, Hanci V.
europepmc   +1 more source