Results 131 to 140 of about 17,994 (195)

Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion). [PDF]

Mol Genet Metab Rep
Scala I, Brodosi L, Rovelli V, Noto D, Burlina A.   +4 more
europepmc   +1 more source

The investigation of serum phenylalanine levels based on infant feeding method: a cross-sectional study of children less than two years old with phenylketonuria (PKU). [PDF]

Int Breastfeed J
Mohammadzadeh Z, Sharifi L, Fatholahpour A, Bazshahi E.   +3 more
europepmc   +1 more source

Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review. [PDF]

Orphanet J Rare Dis, 2020
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Rahman A, Chakraborty P, Geraghty MT, Irwin J, Tessier L, Nicholls SG, Offringa M, Butcher NJ, Iverson R, Clifford TJ, Stockler S, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Ghai SJ, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Mitchell JJ, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK, Canadian Inherited Metabolic Diseases Research Network.   +40 more
europepmc   +1 more source

Phenylketonuria (PKU) in the RSA.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1987
J, Op't Hof, H W, Hitzeroth
openaire   +1 more source

Cost-effectiveness of newborn screening for phenylketonuria and congenital hypothyroidism in Hubei, China. [PDF]

BMJ Open
Wang B, Zhang H, Xia Y, Liu X, Wu Q, Song J, Han J, Ning K.   +7 more
europepmc   +1 more source

Psychometric validation of the NIH Toolbox for use with individuals with phenylketonuria: Evidence from the PHEFREE consortium longitudinal study. [PDF]

J Int Neuropsychol Soc
Tardiff CT, Christ SE, White DA, Dixon MM, Goodlett BD, Janzen DM, Kivel M, Martin A, Sutcliffe MS, Harding CO.   +9 more
europepmc   +1 more source

A pioneering transition program for adults with phenylketonuria - initial findings from a single-center one-year experience from Poland. [PDF]

Clinics (Sao Paulo)
Kania M, Pietruś M, Pawliński Ł, Orchel-Szastak K, Kwinta P, Małecki MT.   +5 more
europepmc   +1 more source

Global Trends in Phenylketonuria Treatment Research, 2000-2025: Bibliometric Analysis. [PDF]

Online J Public Health Inform
Yang S, Song K, Chen Q, Jiang J, Wang L.
europepmc   +1 more source

Lower blood phenylalanine concentrations may be of clinical benefit in adults with phenylketonuria. [PDF]

Mol Genet Metab Rep
Lubout CMA, van Wegberg AMJ, van Adrichem-van Dam E, Jansen ME, van Steenis EM, Heiner-Fokkema MR, van Spronsen FJ.   +6 more
europepmc   +1 more source

Identifying Barriers in the Prescription Pathway of Special Low-Protein Foods and Protein Substitutes for People with PKU in the UK: An Industry Perspective. [PDF]

Nutrients
Tosi M, Ford S, Grimsley A, Bailey S, MacDonald A.   +4 more
europepmc   +1 more source