Results 1 to 10 of about 42,228 (218)
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
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 +3 more
doaj +1 more source
Allelic phenotype prediction of phenylketonuria based on the machine learning method
Human Genomics, 2023 Background Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase (PAH) gene. Our study aimed to predict the phenotype using the allelic genotype.
Yang Fang +10 more
doaj +1 more source
Dental Status and Periodontal Health of Patients with Phenylketonuria in Latvia
Acta Stomatologica Croatica, 2022 Objectives: Phenylketonuria (PKU) is an autosomal recessive inherited disorder of phenylalanine metabolism resulting from a deficiency of phenylalanine hydroxylase.
Iveta Abola +5 more
doaj +1 more source
Fenilcetonuria and hyperactivity: results in extremeños children
INFAD, 2015 Phenylketonuria (PKU) is a type of hyperphenylalaninemias, which are an inborn group of errors of the amino acid phenylalanine metabolism that are usually characterized by producing a severe mental retardation and even death if it is not treated properly.
Virgilio García Aparicio +1 more
doaj +1 more source
The cardiovascular phenotype of adult patients with phenylketonuria [PDF]
, 2019 BACKGROUND: Patients with Phenylketonuria (PKU) are exposed to multiple cardiovascular risk factors, but the clinical significance of these abnormalities is yet unknown.
Azabdaftari, Aline +5 more
core +1 more source
Nutrient Status among Latvian Children with Phenylketonuria
Children, 2023 (1) Introduction: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism. The main treatment for PKU is to manage nutrition, thereby restricting phenylalanine intake. Part of patient management is analyzing eating habits
Olga Lubina +3 more
doaj +1 more source