Results 121 to 130 of about 16,591 (243)

Epidemiological and Clinical Study of Phenylketonuria (PKU) Disease in the National Screening Program of Neonates, Fars Province, Southern Iran

open access: yesIranian Journal of Public Health, 2009
Background: Classic phenylketonuria (PKU) is a rare metabolic disorder that results from a deficiency of a liver enzyme known as phenylalanine hydroxylase (PAH).
S Senemar   +5 more
doaj  

PKU

open access: yes, 2010
R. Hamish McAllister-Williams   +199 more
openaire   +3 more sources

Oral Mycobiome Alterations in Children with Phenylketonuria: Associations with Dietary Intake and Metabolic Context-A Pilot Study. [PDF]

open access: yesNutrients
Ostrowska M   +8 more
europepmc   +1 more source

Quality of life after diet liberalization in individuals with phenylketonuria treated with Pegvaliase. [PDF]

open access: yesMol Genet Metab Rep
Cazzorla C   +8 more
europepmc   +1 more source

<i>In vivo</i> adenine base editing rescues brain biochemistry and improves motor deficits in a common phenylketonuria variant. [PDF]

open access: yesMol Ther Adv
Gautier MK   +8 more
europepmc   +1 more source

Disease Burden and Pharmacological Treatment Patterns in Children and Adults With Phenylketonuria: A Real-World Matched Cohort Study. [PDF]

open access: yesJ Inherit Metab Dis
Longo N   +9 more
europepmc   +1 more source

Comparative Analysis of Dietary Patterns in Children With Phenylketonuria Phenotypes and Controls: Implications for Nutritional Status. [PDF]

open access: yesJ Inherit Metab Dis
Garcia-Arenas D   +9 more
europepmc   +1 more source

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