Results 151 to 160 of about 19,693 (207)

Are Functional Brain Networks Sensitive to High Phenylalanine in Adults With Phenylketonuria? [PDF]

JIMD Rep
Vallesi V, Morishima Y, Winiger L, Trepp R, Everts R, Muri R.   +5 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]

Mol Ther Adv
Gautier MK, King K, Han Y, Said H, Alameh MG, Wang X, Hong X, Musunuru K, Ahrens-Nicklas RC.   +8 more
europepmc   +1 more source

Dietary conflicts with standard clinical procedures for colonoscopy in Phenylketonuria: a case report. [PDF]

J Med Case Rep
Tosi M, Daly A, Ashmore C, Pinto A, Evans S, Verduci E, Ford S, Hill M, Grimsley A, MacDonald A.   +9 more
europepmc   +1 more source

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PKU: niet altijd ‘PKU’

Tijdschrift voor Kindergeneeskunde, 2010
Neonatale screening beoogt ernstige behandelbare aandoeningen bij de pasgeborene op te sporen. Een positieve screening voor fenylketonurie (PKU) betekent niet per definitie dat het gaat om hyperfenylalaninemie ten gevolge van klassieke PKU.
Croonen, E.A., Jonckheere, A.I., Morava, E.   +2 more
openaire   +3 more sources

Molecular genetics of PKU

Journal of Inherited Metabolic Disease, 1986
AbstractThis review summarizes the isolation of rat phenylalanine hydroxylase mRNA and its use in the synthesis of its cDNA. As rat cDNA cross‐hybridized with human phenylalanine hydroxylase mRNA, the rat cDNA probe was used to screen a human liver cDNA library.
F, Güttler, S L, Woo
openaire   +2 more sources

Tetrahydrobiopterin and Maternal PKU

Molecular Genetics and Metabolism, 2005
A 29-year-old woman with PKU is presented, who was successfully treated with phenylalanine restriction as well as oral BH4 during this pregnancy, with a normal outcome. Her PAH mutation was R408W/F39L. Remarkably, the blood phenylalanine control was easily accomplished during this pregnancy.
Flemming Güttler, Richard Koch
exaly   +3 more sources

Maternal PKU syndrome in an exceptional family with unexpected PKU

Journal of Inherited Metabolic Disease, 1986
AbstractMild maternal phenylketonuria needs treatment during pregnancy.
J B, De Klerk, S K, Wadman, H J, Dijkhuis, E E, Meuleman   +3 more
openaire   +2 more sources

Phenylketonuria (PKU): A Problem Solved?

Molecular Genetics and Metabolism Reports, 2016
Phenylketonuria (PKU) is a rare metabolic disorder characterized by impaired conversion of phenylalanine (Phe) to tyrosine. If left untreated, the resultant accumulation of excess blood Phe can cause physiological, neurological, and intellectual ...
Uta Lichter-Konecki
exaly   +2 more sources