Results 41 to 50 of about 11,515 (196)
Neurological images in phenylketonuria (PKU)
Acta Pediátrica de México, 2014 Phenylketonuria is an inborn error of metabolism that causes structural abnormalities in the white matter of the brain. In untreated patients demyelization can be observed, and there is evidence of intramyelin edema even in some treated patients. Imaging
Juan Francisco Cabello
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Nanomaterials, 2022 Phenylketonuria (PKU) is an autosomal recessive disease caused by deficient activity of human phenylalanine hydroxylase (hPAH), which can lead to neurologic impairments in untreated patients.
Márcia M. S. Alves +4 more
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ESC Heart Failure, Volume 12, Issue 2, Page 1455-1463, April 2025.Abstract Aims The extent of irreversible cardiomyocyte necrosis after acute myocardial infarction (AMI) is a major determinant of residual left ventricular (LV) function and clinical outcome. Cell therapy based on CD34+ cells has emerged as an option to help repair the myocardium and to improve outcomes.
Jerome Roncalli +17 more
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Revista da Sociedade Brasileira de Fonoaudiologia, 2012 OBJETIVO: Avaliar a via auditiva de crianças com fenilcetonúria tratadas precocemente, por meio de audiometria, imitanciometria e supressão das emissões otoacústicas transientes. MÉTODOS:Estudo prospectivo transversal comparativo com amostra composta por
Patrícia Souza Ribeiro +4 more
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Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
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Food Chemistry International, EarlyView.The study demonstrates how functional foods, medicinal plants, phytochemicals, bioactive compounds and essential nutrients combat metabolic diseases. It highlights their mechanisms, including antioxidant, anti‐inflammatory, insulin‐sensitising, lipid‐regulating, gut microbiota‐modulating and mitochondrial‐enhancing effects, leading to improved ...
Chinaza Godswill Awuchi +2 more
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Neonatal Phenylketonuria Screening Indices in Kerman district during 2013-2017
پژوهشهای سلامتمحور, 2019 Neonatal Phenylketonuria Screening Indices in Kerman District during 2013-2017 Bavafa Babak1, Ahmadipour Habibeh2*, Bigham Eshrat3 1. Pediatrician, Focal Point of Phenylketonuria, Family Physician Clinic, Afzalipour School of Medicine, Kerman ...
Babak Bavafa +2 more
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Socialization of a patient with late-diagnosed classical phenylketonuria. Case report
Consilium MedicumClassical phenylketonuria (PKU) is a group of autosomal recessive disorders characterized by hyperphenylalaninemia. Phenylketonuria is hyperphenylalaninemia caused by a deficiency of phenylalanine hydroxylase, leading to the accumulation of phenylalanine
Elena V. Proskurina, Olga P. Sidorova
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Pteridines, 1991 The effect of an oral load of phenylalanine (100 mg/kg body weight) on the levels of neopterin and biopterin in urine has been determined in 8 heterozygotes for classical phenylketonuria and 25 supposed normal controls. In basal conditions, neopterin and
Ruiz-Vázquez P. +7 more
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Reproductive experience of women living with phenylketonuria
Molecular Genetics and Metabolism Reports, 2018 Introduction: Many women with PKU are well-informed about the risks of maternal PKU but there are several barriers to achieving satisfactory metabolic control before and during pregnancy.
Suzanne Ford +2 more
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