Results 1 to 10 of about 11,383 (118)

Impact of gut probiotic metabolites on phenylketonuria [PDF]

Frontiers in Cellular and Infection Microbiology
Phenylketonuria is an unusual inherited metabolic disease induced by mutations of the phenylalanine hydroxylase gene, resulting in phenylalanine accumulation.
Anjana Kalla Veedu, Sujithra Vijayakumar, Hannah A. Joseph, John Thomas   +3 more
doaj   +2 more sources

Sepiapterin as a treatment for people living with phenylketonuria: a plain language summary of the APHENITY trial [PDF]

Journal of Comparative Effectiveness Research
What is this summary about? This plain language summary is based on an article about the APHENITY trial that was published in The Lancet journal in October 2024.
Ania C Muntau, Sarah Gallagher, Melissa Lah, Amaya Belanger-Quintana, Nicola Longo   +4 more
doaj   +2 more sources

Effect of Online Education on Mothers' Knowledge and Practice regarding Caring for Children with Phenylketonuria [PDF]

Egyptian Journal of Health Care, 2023
Background: Phenylalanine hydroxylase activity is deficient in phenylketonuria.  Phenylketonuria is an inherited metabolic disease of protein metabolism.
Nagwa Ramadan Esmail Magor, Silvia Farouk Shalaby, Yasmen Adel Mohammed, Rasha Saeed Abdelsamea Attia, Manal Mohamed Ahmed Ayed   +4 more
doaj   +1 more source

Assessment of adjustment pattern of children suffering from phenylketonuria [PDF]

Helwan International Journal for Nursing Research and Practice, 2022
Background: Phenylketonuria is an autosomal-recessive inborn error of amino acid metabolism characterized by elevated blood phenylalanine. The study aimed to: assess adjustment patterns of children suffering from phenylketonuria.
Safaa Ismail, Wafaa Ouda, Manar Mohamed
doaj   +1 more source

Effect of Nutritional Intervention Program for Mothers on Health Parameters of Infant with Phenylketonuria [PDF]

Tanta Scientific Nursing Journal, 2023
Background: Phenylketonuria is a rare inborn inherited disorder of metabolism disease due to an autosomal recessive trait. The prevalence in Egypt is one case per 7,500.
Mona Ahmed El-Safty, Rahma Bahgat, Ebtisam El-sayed   +2 more
doaj   +1 more source

Short-time anesthesia of a child with phenylketonuria: a case report

Brazilian Journal of Anesthesiology, 2021
Phenylketonuria is a rare disorder that increases the levels of phenylalanine in the blood. As there are scant articles about anesthesia management in phenylketonuria patients, this encouraged us to report a short-time anesthesia management of a child ...
Masoud Tarbiat, Sayed Ahmad Reza Salimbahrami, Ali Goudarzi, Mahmoud Rezaei   +3 more
doaj   +1 more source

Helicobacter pylori Infection in Children with Phenylketonuria Does Not Depend on Metabolic Control and Is Not More Frequent Than in Healthy Subjects—A Cross-Sectional Study

Children, 2021
In a small preliminary study, phenylketonuria and poor metabolic control were suggested as risk factors for Helicobacter pylori infection in children as detected with an antigen stool test.
Marek Walkowiak, Łukasz Kałużny, Renata Mozrzymas, Małgorzata Jamka, Bożena Mikołuć, Joanna Jagłowska, Ewa Starostecka, Roza Nurgaliyeva, Jarosław Walkowiak, Aleksandra Lisowska   +9 more
doaj   +1 more source

Caring for A Child with Phenylketonuria: Struggles and Psychological Well- being of Parents and Children [PDF]

Tanta Scientific Nursing Journal, 2023
Background: Phenylketonuria is a genetic disorder resulting from lack or inadequacyof phenylalanine hydroxylase enzyme activity. Caring for and making nutritionaldecisions for a child with phenylketonuria puts a great deal of stress on the parents ...
Khadiga Moustafa, Miada Hanfy, Eman AboElela   +2 more
doaj   +1 more source

Assessment of mothers' knowledge and practice regarding care of their children suffering from phenylketonuria [PDF]

Helwan International Journal for Nursing Research and Practice
Background Phenylketonuria is an inherited metabolic disease caused by phenylalanine hydroxylase deficiency. Aim This study aimed to assess mothers’ knowledge and practice regarding care of their children suffering from Phenylketonuria.
khulod Ali
doaj   +1 more source

Prevention of maternal phenylketonuria. Dietary management in the preconception period and during pregnancy

Pediatria i Medycyna Rodzinna, 2018
Phenylketonuria (Online Mendelian Inheritance in Man 261600) is the most common genetic autosomal recessive disease affecting metabolism. This diet-dependent condition is found in Poland in 1:8,000 live births.
Joanna Żółkowska, Kamil Konrad Hozyasz, Maria Nowacka   +2 more
doaj   +1 more source