Results 31 to 40 of about 7,438 (233)
Diet Therapy and Nutritional Management of Phenylketonuria [PDF]
, 2022 Phenylketonuria (PKU) is an established inherited amino acid disorder with a very traditional dietary therapy, but there is still more to learn and verify about its nutritional composition, application and overall effectiveness.
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Phenylketonuria: Genes in Phenylketonuria, Diagnosis, and Treatments [PDF]
SSRN Electronic Journal, 2019 Introduction: Phenylketonuria (PKU) is a rare autosomal-recessive disorder inherited in accordance with the law of segregation. Detection tools for people with PKU can include Sanger Sequencing (SS) and Next Generation Sequencing (NGS). Diet therapy, Large Neutral Amino Acids (LNAA), and Specific Nutrient Combination (SNC) can help alleviate people ...
openaire +3 more sources
Cost analysis of universal neonatal screening for inborn errors of metabolism with tandem mass spectrometry in Colombia [PDF]
, 2014 Antecedentes: La espectrometría de masas en tándem permite procesar muchas muestras de sangre seca, enviadas por correo ordinario, para detectar anomalías congénitas. En varios países, estas pruebas se hacen de manera rutinaria.
Rosselli, Diego +2 more
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Cellular Oxidative Stress [PDF]
, 2022 This book collects 17 original research papers and 9 reviews that are part of the Special Issue “Cellular Oxidative Stress”, published in the journal Antioxidants.
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Revista da Sociedade Brasileira de Fonoaudiologia, 2010 OBJETIVO: Investigar a existência de alterações na audição de crianças com fenilcetonúria diagnosticadas e tratadas precocemente e comparar os resultados com os encontrados nas avaliações auditivas de crianças normais de mesma idade.
Patrícia Cotta Mancini +5 more
doaj +1 more source
Revista CEFAC, 2010 TEMA: a fenilcetonúria é uma doença genética que provoca alterações bioquímicas conduzindo a uma deficiência na síntese de proteínas e de neurotransmissores, e prejudicando o processo de mielinização.
Patrícia Cotta Mancini +4 more
doaj +1 more source
Delivery of A Chemically Modified Noncoding RNA Domain Improves Dystrophic Myotube Function
Advanced Science, EarlyView.CYTOR is a pro‐myogenic ncRNA in skeletal muscle. Here, chemical probing of CYTOR, coupled with functional cellular assays identifies exon 2 as an independent myogenic RNA domain. Chemical engineering of CYTOR exon 2 RNA improves pharmacologic properties, including RNA stability and cell‐autonomous immunogenicity.
Zeinabou Niasse‐Sy +6 more
wiley +1 more source
Advanced Science, EarlyView.This study introduces cuproptosis nanoplatform, a novel nanoplatform using Cu2−XS hollow nanospheres, elesclomol, and lauric acid (LA) for self‐amplified cuproptosis. NIR‐II laser activation melts LA, releasing copper ions and elesclomol to enhance copper delivery within tumor cells, reduce glutathione's inhibitory effect, and trigger immunogenic cell ...
Runzi Cheng +10 more
wiley +1 more source
Dual‐Mode Flexible Parylene‐C‐Based In‐Memory Tactile Sensory Device with CMOS Compatibility
Advanced Electronic Materials, EarlyView.A flexible in‐memory tactile device with a simple structure is constructed to achieve pressure information sensing, storage, and erasure functions within a single device. The device exhibits two operation modes: pressure mode and voltage mode, offering outstanding electrical performance, mechanical properties, and CMOS compatibility.
Chaoyi Ban +6 more
wiley +1 more source
PKU: attention and executive profile in early detected and adequately treated patients [PDF]
, 2021 Antecedentes: Los pacientes fenilcetonúricos, incluso adecuadamente diagnosticados y tratados, pueden resultar con disfunción neurocognitiva. Objetivo: Evaluar la neurocognición de niños fenilcetonúricos y su relación con variables de la enfermedad y su ...
Chiesa, Ana Elena +3 more
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