Results 21 to 30 of about 25,962 (237)

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

Long-Term Safety and Efficacy of Pegvaliase in Japanese Adults With Phenylketonuria: Final Results of a Phase III Trial. [PDF]

JIMD Rep
ABSTRACT Phenylketonuria (PKU) is an inborn error of metabolism leading to phenylalanine (Phe) accumulation and consequent neurological, neurocognitive, and psychiatric symptoms. Pegvaliase, a pegylated recombinant phenylalanine ammonia lyase that metabolizes Phe, effectively reduced blood Phe in phase III studies in the United States. This multicenter,
Nakajima Y, Ishige M, Ito T, Hamazaki T, Kuwahara M, Lee L, Shintaku H.   +6 more
europepmc   +2 more sources

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

Association of immune response with efficacy and safety outcomes in adults with phenylketonuria administered pegvaliase in phase 3 clinical trials [PDF]

, 2018
Background: This study assessed the immunogenicity of pegvaliase (recombinant Anabaena variabilis phenylalanine [Phe] ammonia lyase [PAL] conjugated with polyethylene glycol [PEG]) treatment in adults with phenylketonuria (PKU) and its impact on safety ...
Atkinson, John P, Boyer, Ryan, Gu, Zhonghu, Gupta, Soumi, Harding, Cary O, Knight, Vijaya, Larimore, Kevin, Lau, Kelly, Li, Mingjin, Olbertz, Joy, Rosen, Orli, Shepherd, Gillian, Shweighardt, Becky, Weng, Haoling H, Zoog, Stephen J   +14 more
core   +2 more sources

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

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

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, Giet, Markus van der, Hennermann, Julia B., Plöckinger, Ursula, Querfeld, Uwe, Schuchardt, Mirjam   +5 more
core   +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