Results 11 to 20 of about 17,994 (195)
NUTRITIONAL KNOWLEDGE IN PHENYLKETONURIA (PKU)
Alimentos e Nutrição, 2009 <p align="justify">ABSTRACT: A review of phenylketonuria (PKU) an autosomal recessive genetic desorder discovered and described in 1934 is presented and discussed.
Beatriz D. O. MIRANDA DA CRUZ +2 more
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Neuropathology of phenylketonuria (PKU)
Acta Pediátrica de México, 2014 Untreated phenylketonuria (PKU) causes cognitive, neuropsychological and motor skills impairment as well as microcephaly and demyelization. Persistent hyperphenylalaninemia produces toxicity on neurons and glial cells, alters cortical development, growth
Norma Specola
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Methodological aspects of the use of dry components of chicken eggs for feeding children with phenylketonuria [PDF]
Пищевые системы, 2021 Currently, one of the most important tasks facing science and production is the creation of functional product technologies for use in different diets of the population in order to preserve and improve health, as well as reduce the risks and consequences
S. T. Bykova +3 more
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Phenylketonuria (PKU): A problem solved? [PDF]
Mol Genet Metab Rep, 2016 Phenylketonuria (PKU) is a rare metabolic disorder characterized by impaired conversion of phenylalanine (Phe) to tyrosine. If left untreated, the resultant accumulation of excess blood Phe can cause physiological, neurological, and intellectual disabilities.
Brown CS, Lichter-Konecki U.
europepmc +5 more sources
Phenylketonuria (PKU) in adults
Acta Pediátrica de México, 2014 Monitoring phenylketonuria adult patients is an important subject which has created considerable interest in specialized metabolic clinics. The aim of this paper is to present an overview of the experience with these patients in the Unit of Metabolic ...
Mercedes Martínez-Pardo
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PKU dietary handbook to accompany PKU guidelines [PDF]
Orphanet Journal of Rare Diseases, 2020 Background Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.
A. MacDonald +17 more
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Blood phenylalanine instability strongly correlates with anxiety in phenylketonuria [PDF]
Molecular Genetics and Metabolism Reports, 2018 We assessed the relationship between anxiety and long-term metabolic control in adolescents with phenylketonuria (PKU). We used a standardized psychological test to measure anxiety level and analyzed lifelong blood phenylalanine stability in a selected ...
Bozena Didycz, Miroslaw Bik-Multanowski
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Phenylketonuria: central nervous system and microbiome interaction
Journal of Pediatric and Neonatal Individualized Medicine, 2017 Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism characterized by increased phenylalanine (Phe) levels causing an inadequate neurodevelopment; the treatment of PKU is a Phe-restricting diet, and as such it can modulate the ...
Demian Arturo Herrera Morban
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Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey [PDF]
, 2021 Many countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU).
Chabraoui, L +8 more
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Anesthetic management of a patient with hereditary fructose intolerance and phenylketonuria
The Turkish Journal of Pediatrics, 1993 This is a report of a five-year-old girl with phenylketonuria (PKU) and hereditary fructose intolerance (HFI) who underwent elective strabismus surgery.
V Celiker, O Dural, K Erdem
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