Results 21 to 30 of about 16,232 (245)

Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis [PDF]

Clinical and Experimental Pediatrics, 2020
Phenylketonuria is a disease caused by congenital defects in phenylalanine metabolism that leads to irreversible nerve cell damage. However, its detection in the early days of life can reduce its severity.
Hamid Reza Shoraka, Ali Akbar Haghdoost, Mohammad Reza Baneshi, Zohre Bagherinezhad, Farzaneh Zolala   +4 more
doaj   +1 more source

Assessment of Lifestyle for Children with Phenylketonuria [PDF]

Egyptian Journal of Health Care, 2021
Background: Phenylketonuria is an autosomal recessive disorder characterized by accumulation of phenylalanine in blood and body fluids that is caused by defective Phe hydroxylase activity. Aim of the present study is to assess lifestyle for children with
Safaa Fouad Draz, Iman Ibrahim Abd Al-Moniem, Sohair Roby Abd Alghafar   +2 more
doaj   +1 more source

Upgrading Mothers' Knowledge and Practice Regarding the Care of their Children Suffering from Phenylketonuria [PDF]

Egyptian Journal of Health Care, 2022
Background: Phenylketonuria (PKU) is a hereditary metabolic disorder caused by phenylalanine hydroxylase deficiency. Aim: This research aimed to assess the influence of an educational program on upgrading knowledge and practice of mothers regarding the ...
Shereen Said Gouda, Baraka Fam Mery, Heba AbdAllah AbdElnabi   +2 more
doaj   +1 more source

Phenylketonuria felnőttkorban | Adult phenylketonuria [PDF]

, 2017
Absztrakt: A phenylketonuria 1975 óta az újszülöttkori tömegszűrés része. Mára már hazánkban is felnőtt egy olyan generáció, amely születésétől kezdve speciális diétát tart és orvosi tápszert ...
Reismann, Péter, Barta, András Gellért, Barta András Gellért, András Gellért Barta, Sumánszki, Csaba, Péter Reismann, Csaba Sumánszki   +6 more
core   +1 more source

Dietary amino acid intakes associated with a low-phenylalanine diet combined with amino acid medical foods and glycomacropeptide medical foods and neuropsychological outcomes in subjects with phenylketonuria

Data in Brief, 2017
This article provides original data on median dietary intake of 18 amino acids from amino acid medical foods, glycomacropeptide medical foods, and natural foods based on 3-day food records obtained from subjects with phenylketonuria who consumed low ...
Bridget M. Stroup, Sangita G. Murali, Nivedita Nair, Emily A. Sawin, Fran Rohr, Harvey L. Levy, Denise M. Ney   +6 more
doaj   +1 more source

Overview of neonatal screening for phenylketonuria in Brazil

Medicina, 2016
Objectives: To present an overview of neonatal screening for phenylketonuria in Brazil. Methodology: An electronic search was made in LILACS, employing the terms “neonatal screening” and “Brazil” and “Phenylketonuria”.
Alessandra B. Trovó de Marqui
doaj   +1 more source

An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

BMC Pediatrics, 2005
Background Phenylketonuria is an inborn error of amino acid metabolism which can cause severe damage to the patient or, in the case of maternal phenylketonuria, to the foetus.
Weigel Corina, Topf Hans G, Schellmoser Stefan, Zschocke Johannes, Knerr Ina, Dötsch Jörg, Rascher Wolfgang   +6 more
doaj   +1 more source

Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder

The Turkish Journal of Pediatrics, 2016
Phenylketonuria, previously a common cause of severe intellectual disability, is a metabolic disorder now promptly diagnosed and effectively treated thanks to newborn screening programs.
Yılmaz Yıldız, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun, Hatice Serap Sivri   +4 more
doaj   +1 more source

Cardiac Magnetic Resonance Reveals Incipient Cardiomyopathy Traits in Adult Patients With Phenylketonuria

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2021
Background Phenylketonuria is the most common inborn error of amino acid metabolism, where oxidative stress and collateral metabolic abnormalities are likely to cause cardiac structural and functional modifications.
Radu Tanacli, Jan‐Hendrik Hassel, Rolf Gebker, Alexander Berger, Michael Gräfe, Christopher Schneeweis, Patrick Doeblin, Eckart Fleck, Christian Stehning, Frank Tacke, Burkert Pieske, Joachim Spranger, Ursula Plöckinger, Athanasia Ziagaki, Sebastian Kelle   +14 more
doaj   +1 more source

Artificial Cells: Perspective on Reconstructing Biological Cells and "Out of the Box" Innovations. [PDF]

Chembiochem
The first artificial cell was artificial red blood cells (RBCs) (Chang, 1957), RBC is one of the most important cells because our cells, tissues, organs, and whole human being need it for survival. Even more exciting is innovating this to result in artificial cells of unlimited configurations, contents, and applications.
Chang TMS.
europepmc   +2 more sources