Results 1 to 10 of about 38,387 (251)

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 ...
Louis I. Woolf, John Adams
doaj   +3 more sources

Our lives with PKU: German patient voices - “Nothing about us without us” [PDF]

Molecular Genetics and Metabolism Reports
Objectives: 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, Jens Böhmer, Yvonne Deich, Daniel Dickneite, Pascale Fuchs, Verena Naunheim, Angelika Scholz, Christian Heimbold   +7 more
doaj   +2 more sources

Cognition and wellbeing in middle-aged early treated people with phenylketonuria: Preliminary results and methodological lessons [PDF]

Molecular Genetics and Metabolism Reports
The first cohort of early-treated adults with phenylketonuria (PKU) is reaching middle-age and moving towards old age. We do not know if and how the effects of an aging brain may interact with the effect of PKU.
Lucie Thomas, Lynne Aitkenhead, Karolina M. Stepien, Alison Woodall, Anita Macdonald, Cristina Romani   +5 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

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
openaire   +9 more sources

Correction to: PKU dietary handbook to accompany PKU guidelines [PDF]

Orphanet Journal of Rare Diseases, 2020
An amendment to this paper has been published and can be accessed via the original article.
Jaime Campistol, Alessandro P. Burlina, Amaya Belanger-Quintana, Stephan C. J. Huijbregts, Maria Gizewska, Anita MacDonald, François Feillet, A.M.J. van Wegberg, Friedrich K. Trefz, F. J. van Spronsen, Cristina Romani, Vincenzo Leuzzi, Skadi Beblo, K. Ahring, François Maillot, Ania C. Muntau, Júlio César Rocha, Turgay Coşkun   +17 more
openaire   +7 more sources

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

Alternative Therapies for PKU [PDF]

Journal of Inborn Errors of Metabolism and Screening, 2017
The phenylalanine (PHE)-restricted diet has improved in quality and diversity over time and has proven to be effective in all patients. Nevertheless, this treatment imposes a heavy social and economic burden to patient and family and impacts quality of life. Sustained adherence to PHE restriction is difficult to maintain.
Spécola, Norma, Chiesa, Ana
openaire   +5 more sources