Results 31 to 40 of about 31,184 (250)

Phenylalanine Effects on Brain Function in Adult Phenylketonuria

Neurology, 2020
Objective To evaluate the relationship between circulating phenylalanine and brain function as well as neuropsychiatric symptoms in adults with phenylketonuria.
A. Pilotto, C. Zipser, Edytha Leks, D. Haas, G. Gramer, P. Freisinger, E. Schaeffer, I. Liepelt-Scarfone, K. Brockmann, W. Maetzler, C. Schulte, Christian Deuschle, A. Hauser, G. Hoffmann, K. Scheffler, F. V. van Spronsen, A. Padovani, F. Trefz, D. Berg   +18 more
semanticscholar   +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

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

Bone Status in Patients with Phenylketonuria: A Systematic Review

Nutrients, 2020
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Although dietary and, in some cases, pharmacological treatment has been successful in preventing intellectual disability in PKU patients who are treated early, suboptimal ...
M. D. de Castro, C. de Lamas, P. Sánchez-Pintos, D. González-Lamuño, M. Couce   +4 more
semanticscholar   +1 more source

Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test [PDF]

, 2018
: Neonatal screening for phenylketonuria (PKU, OMIM: 261600) was introduced at the end of the 1960s. We developed a rapid and simple molecular test for the most frequent phenylalanine hydroxylase (PAH, Gene ID: 5053) mutations.
Antonio Angeloni, ARTIOLA, CRISTIANA, CARDUCCI, Carla, CARDUCCI, Claudia, D'AMICI, SIRIO, GIOVANNIELLO, TERESA, Manuela Tolve, PASQUALI, Amelia, PIZZUTI, Antonio, Vincenzo Leuzzi   +9 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

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
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

Genotype-phenotype correlation in phenylketonuria [PDF]

Romanian Journal of Pediatrics, 2021
Introduction. Phenylketonuria is an inborn metabolism error with a high phenotypical variability, due in part to the large number of implicated genetical variants (over 1200 reported) but also due to other factors.
Alin Remus Iuhas, Claudia Jurca, Marius Bembea   +2 more
doaj   +1 more source