Results 21 to 30 of about 25,909 (224)

Erythrocytes as Carriers of Therapeutic Enzymes. [PDF]

, 2020
Therapeutic enzymes are administered for the treatment of a wide variety of diseases. They exert their effects through binding with a high affinity and specificity to disease-causing substrates to catalyze their conversion to a non-noxious product, to ...
Bax, BE
core   +1 more source

Incidence of phenylketonuria and the effect of prevention national program on reducing its incidence in the population covered by Kerman University of Medical Sciences during 2007-2020 [PDF]

Majallah-i Zanān, Māmā̓ī va Nāzā̓ī-i Īrān, 2022
Introduction: Phenylketonuria (PKU) is the most common inherited metabolic disease in Iran that can be prevented by prenatal diagnostic tests (PND).
Salman Daneshi, Fatemeh Mohseni Takaloo, Maryam Rezabeigi Davarani, Batool Heidarabadi, Esmat Rezabeigi Davarani   +4 more
doaj   +1 more source

Unbalance between Excitation and Inhibition in Phenylketonuria, a Genetic Metabolic Disease Associated with Autism [PDF]

, 2017
Phenylketonuria (PKU) is the most common genetic metabolic disease with a well-documented association with autism spectrum disorders. It is characterized by the deficiency of the phenylalanine hydroxylase activity, causing plasmatic hyperphenylalaninemia
Andolina, Diego, Colamartino, Marco, DE ANGELIS, Federica, DE JACO, Antonella, Favaloro, FLORES LIETTA, Fiori, Elena, Mango, Dalila, Nistico', ROBERT GIOVANNI, Pascucci, Tiziana   +8 more
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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

Economics of tandem mass spectrometry screening of neonatal inherited disorders [PDF]

, 2006
Objectives: The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). Methods: A systematic review
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core   +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

Living with phenylketonuria in adulthood: the PKU ATTITUDE study [PDF]

, 2018
Dietary treatment is the cornerstone of therapy for phenylketonuria (PKU), but adherence to low- phenylalanine diet progressively decreases after adolescence.
Bensi, Giulia, Biasucci, Giacomo, Burlina, Alberto, Cazzorla, Chiara, Leuzzi, Vincenzo, Manti, Filippo, Musumeci, Antonella, Papadia, Francesco, Polo, Giulia, Stoppioni, Vera, Tummolo, Albina, Vendemiale, Marcella   +11 more
core   +2 more sources

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

Executive function in adolescents with PKU and their siblings: Associations with biochemistry

Molecular Genetics and Metabolism Reports, 2015
Previous research shows consistent and marked executive function impairment in children with early and continuously treated phenylketonuria. This between groups analysis (phenylketonuria group vs sibling controls) found no significant differences in ...
R. Sharman, K. Sullivan, R. Young, J. McGill   +3 more
doaj   +1 more source