Results 161 to 170 of about 26,955 (257)

Evaluation of bone mineral density and biochemical markers in pediatric patients with phenylketonuria. [PDF]

Mol Genet Metab Rep
Ehsasat Vatan A, Mottaghizade Gargari A, Haghtalab A, Ebrahimpour Seraydar N.   +3 more
europepmc   +1 more source

Autism spectrum disorder and inherited metabolic diseases: are there any common features? [PDF]

Pediatr Endocrinol Diabetes Metab
Lipiński P.
europepmc   +1 more source

Genetic analysis of treated and untreated phenylketonuria in one family. [PDF]

, 1990
Linda Tyfield, Andrea L. Meredith, M. Osborn, R Primavesi, Tom Chambers, J. B. Holton, Peter S. Harper   +6 more
openalex   +1 more source

DUWL Disinfectants and Pregnancy: Is Phenyalanine a Cause for Concern? [PDF]

Int Dent J
Alalawi M, Al-Saffar H.
europepmc   +1 more source

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

Genotypic and phenotypic characteristics of Turkish patients with phenylalanine metabolism disorders. [PDF]

Metab Brain Dis
Kuzucu FN, Kilic M, Sezer A, Has-Ozhan S, Yildiz H, Celen-Yoldas T, Onat FN, Uyanik M.   +7 more
europepmc   +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

The Implication of Alpha-Keto Acid Effects on Mitochondrial Respiration in the Etiology of Branched-Chain Ketonuria and Phenylketonuria.

, 1978
George R. Helmer
openalex   +2 more sources

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

Modelling Population Genetic Screening in Rare Neurodegenerative Diseases. [PDF]

Biomedicines
Spargo TP, Iacoangeli A, Ryten M, Forzano F, Pearce N, Al-Chalabi A.   +5 more
europepmc   +1 more source