Results 201 to 210 of about 30,878 (268)

Patient journey and disease burden characterization of the population with phenylketonuria (PKU) in Brazil: a retrospective analysis through data reported in the public health system administrative database (DATASUS). [PDF]

Lancet Reg Health Am
Vargas PR, Poubel M, Martins B, Velez P, Vilela D, Mesojedovas D, Sá Pacheco Carneiro Magalhães T, Louie KS, Pessoa A.   +8 more
europepmc   +1 more source

Founder effect of a prevalent phenylketonuria mutation in the Oriental population.

, 1991
T Wang, Y Okano, Randy C. Eisensmith, Michele Harvey, Wilson H.Y. Lo, S Z Huang, Y T Zeng, Lin Yuan, Jun-ichi Furuyama, T Oura   +9 more
openalex   +1 more source

A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback. [PDF]

J Inherit Metab Dis
Saudubray JM, Schiff M.
europepmc   +1 more source

Prevalence of congenital heart disease in patients with phenylketonuria

, 1992
Richard Koch, Julian Williams
openalex   +1 more source

Intelligence quotient scores among early-treated phenylketonuria patients: results from a systematic literature review. [PDF]

Orphanet J Rare Dis
O'Sullivan F, Tomazos I, van Spronsen FJ, Szabo SM, Venkataraman M, Huria L, Smith N, Molony L, Ingalls K, Somera-Molina K, Zhang R, Harding CO.   +11 more
europepmc   +1 more source

Vitamin B-6 status of school-aged patients with phenylketonuria

, 1994
AP Prince, JE Leklem
openalex   +1 more source

Our lives with PKU: German patient voices - "Nothing about us without us". [PDF]

Mol Genet Metab Rep
Lange K, Böhmer J, Deich Y, Dickneite D, Fuchs P, Naunheim V, Scholz A, Heimbold C.   +7 more
europepmc   +1 more source

Neurological deterioration in young adults with phenylketonuria

, 1990
RichardJ. Allen
openalex   +1 more source

Spectrum of <i>PAH</i> gene variants in Jordanian patients with phenylalanine hydroxylase deficiency. [PDF]

Biomed Rep
Fathallah R, Al-Rashed K, Arafat A, Awwad H, Maraqa L, El-Khateeb M, Shboul M.   +6 more
europepmc   +1 more source