Results 1 to 10 of about 16,591 (243)

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

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.
Viviana J Mancilla, Allison E Mann, Michael S Allen   +2 more
exaly   +5 more sources

PKU dietary handbook to accompany PKU guidelines [PDF]

Orphanet Journal of Rare Diseases, 2020
Abstract Background Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. Main body In 2017 the first European PKU Guidelines were published.
MacDonald A., Van Wegberg A. M. J., Ahring K., Beblo S., Belanger-Quintana A., Burlina A., Campistol J., Coskun T., Feillet F., Gizewska M., Huijbregts S. C., Leuzzi V., Maillot F., Muntau A. C., Rocha J. C., Rocha J. C., Romani C., Trefz F., Van Spronsen F. J.   +18 more
core   +12 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 ...
S Evans, A Daly, Catherine Ashmore
exaly   +3 more sources

Health Related Quality of Life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaire

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.
András Gellert Barta, Peter Reismann
exaly   +3 more sources

Sibling-controlled study of the impact of dietary therapy on the gut microbiota in children with phenylketonuria [PDF]

Frontiers in Nutrition
BackgroundPhenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by a deficiency of phenylalanine hydroxylase activity. Due to intolerance to the dietary intake of phenylalanine (Phe), the patients need to take a low-protein diet ...
Natsuki Ohmi-Shimizu, Chika Takano, Chika Takano, Noriko M. Tsuji, Noriko M. Tsuji, Noriko M. Tsuji, Motoko Iwama, Naoko Okamura, Shihoko Komine-Aizawa, Satoshi Hayakawa, Satoshi Hayakawa, Erika Ogawa, Erika Ogawa, Ichiro Morioka, Mika Ishige   +14 more
doaj   +2 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, Claudia Jurca, Marius Bembea   +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, Mohammed Alsbou, Nashat Taani, Ghazi Sharkas, Refqi Ismael, Latifeh Maraqa, Omar Nemri, Hanin Al-Jawaldeh, Nadeen Kopti, Enas Atieh, Arab Almasri   +10 more
doaj   +1 more source

No evidence for systemic low‐grade inflammation in adult patients with early‐treated phenylketonuria: The INGRAPH study

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, Yann Dos Santos, Hélène Blasco, Christophe Paget, Loïc Gonzalez, Nathalie Tressel, Maeva Dieu, Adrien Bigot, Valérie Gissot, Alexandra Audemard‐Verger, François Maillot   +10 more
doaj   +1 more source