Results 91 to 100 of about 25,909 (224)
Journal of Rehabilitation, 2013 Objective: This Study aimed to investigate the level of personal-social developmental skills in 1-4 years old children with early treated phenylketonuria.
Zahra Ghadbeigi +4 more
doaj
پزشکی بالینی ابن سینا, 2020 Background and Objective: Phenylketonuria is one of the most common metabolic disorders which causes brain abnormalities in children if they do not receive treatment or their treatment is delayed or ineffective. In this regard, the present study aimed to
Zahra Mortazavi +4 more
doaj
Assessment of Metabolic Parameters For Autism Spectrum Disorders [PDF]
, 2009 Autism is a brain development disorder that first appears during infancy or childhood, and generally follows a steady course without remission. Impairments result from maturation-related changes in various systems of the brain.
Ghosh, S +4 more
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Department of Health Research, Sintef Technology and Society, Oslo, Norway
Scandinavian Journal of Disability Research, 2014 Today most adults with phenylketonuria (PKU) have followed a protein restricted diet from early infancy. This makes their disorder an invisible impairment which becomes visible only when food is served.
Plata Sofie Diesen +2 more
doaj +1 more source
Phenylketonuria: A Comprehensive Review of Pathophysiology, Diagnosis, and Management Strategies
Quality in SportIntroduction: Phenylketonuria (PKU) is a genetically determined congenital metabolic disorder characterized by the body's inability to properly metabolize the amino acid phenylalanine, which is ingested through food.
Agata Konopka +5 more
doaj +1 more source
Педиатрическая фармакология, 2018 Background. The nutrition of children with phenylketonuria includes specialized starch-based products, the range of which is constantly expanding. Our aim was to study the safety of the composition of starchy flakes enriched with a complex of fat-soluble
Tatiana V. Bushueva +11 more
doaj +1 more source
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 +1 more source
The role of fibroblast growth factors in cell and cancer metabolism
FEBS Letters, Volume 600, Issue 2, Page 140-163, January 2026.Fibroblast growth factor (FGF) signaling regulates crucial signaling cascades that promote cell proliferation, survival, and metabolism. Therefore, FGFs and their receptors are often dysregulated in human diseases, including cancer, to sustain proliferation and rewire metabolism.
Jessica Price, Chiara Francavilla
wiley +1 more source
Newborn screening using tandem mass spectrometry: A systematic review [PDF]
Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C. +4 more
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