Results 1 to 10 of about 19,693 (207)
The Early History of PKU [PDF]
International Journal of Neonatal Screening, 2020 The story of phenylketonuria (PKU) started in 1934 with Asbjørn Følling’s examination of two mentally retarded siblings from a Norwegian family. However, if their mother had not been so persistent in her search for somebody who could give her a reason ...
John Adams
exaly +6 more sources
The Adult Phenylketonuria (PKU) Gut Microbiome [PDF]
Microorganisms, 2021 Phenylketonuria (PKU) is an inborn error of phenylalanine metabolism primarily treated through a phenylalanine-restrictive diet that is frequently supplemented with an amino acid formula to maintain proper nutrition.
Allison E. Mann +2 more
exaly +4 more sources
The Influence of Parental Food Preference and Neophobia on Children With Phenylketonuria (PKU)
Molecular Genetics and Metabolism Reports, 2018 Background: In a previous case-control study, we demonstrated that children with PKU and non-PKU controls preferred sweet foods. Additionally, children with PKU exhibited food neophobia, with no preference for bitter tasting foods associated with the ...
Sharon Evans, Anne Daly, Anita Macdonald
exaly +4 more sources
Molecular Genetics and Metabolism Reports, 2020 Background: The implementation of neonatal screening and the early initiation of lifelong therapy have helped to prevent severe complications and enabled much more favorable outcomes for early-treated phenylketonuria (ETPKU) patients.
Peter Reismann +2 more
exaly +3 more sources
Sexual and reproductive life in adolescents and young adults with phenylketonuria: a cross-sectional study [PDF]
Orphanet Journal of Rare DiseasesBackground Phenylketonuria (PKU) is a rare inherited metabolic disorder requiring lifelong treatment. While early diagnosis and dietary management have substantially improved neurocognitive outcomes, less is known about how PKU affects sexual life ...
Bożena Mikołuć +7 more
doaj +2 more sources
Our Lives With PKU: German Patient Voices - “Nothing About Us Without Us”
Molecular Genetics and Metabolism ReportsObjectives: Many publications describe experiences of healthcare professionals (HCPs) on managing phenylketonuria (PKU), but literature on the perspectives of individuals with PKU is limited.
Karin Lange
exaly +3 more sources
Epidemiological aspects in phenylketonuria patients from a region in northwestern Romania [PDF]
Romanian Journal of Pediatrics, 2022 Introduction. Phenylketonuria (PKU), a genetic disease with autosomal dominant transmission, is the most frequent inborn error in aminoacid metabolism.
Alin Remus Iuhas +2 more
doaj +1 more source
Perkembangan Amal Usaha Muhammadiyah di Bidang Pendidikan dan Kesehatan
Jurnal Studi Islam dan Kemuhammadiyahan, 2022 Organisasi Muhammadiyah sebagai organisasi Islam telah mampu memberikan pengaruh yang cukup besar bagi dunia organisasi pergerakan nasional. Sebagai organisasi, Organisasi Muhammadiyah di beberapa cabang mempunyai visi dan misi, yaitu “Muhammadiyah ...
Ferihana Ferihana
doaj +1 more source
Epidemiology of Phenylketonuria Disease in Jordan: Medical and Nutritional Challenges
Children, 2022 Background: Phenylketonuria (PKU) is the most frequent inborn error in amino acid metabolism caused by a deficiency of the phenylalanine hydroxylase enzyme (PAH).
Safwan Dababneh +10 more
doaj +1 more source
JIMD Reports, 2023 The question of an increased cardiovascular risk has been recently raised in adults with phenylketonuria (PKU). As low‐grade systemic inflammation increases cardiovascular risk, the INGRAPH study aimed to evaluate low‐grade inflammation in adult PKU ...
Chloé Giret +10 more
doaj +1 more source