Results 41 to 50 of about 25,962 (237)
Asian Journal of Medical Sciences, 2018 Background: Phenylketonuria, commonly known as PKU, is an inherited disorder in which there is an abnormally elevated blood level of the amino acid phenylalanine leading to several pathologies affecting multiple organs including the central nervous ...
Ahmed Al-Imam
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Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study [PDF]
, 2017 PURPOSE: The aims of this study were to characterize isolated and non-isolated forms of corpus callosum dysgenesis (CCD) at fetal magnetic resonance imaging (MRI) and to identify early predictors of associated anomalies.
Antonelli, Amanda +11 more
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Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
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Multiple superficial mucoceles on the lower lip of a patient with phenylketonuria: A case report
Journal of Craniomaxillofacial Research, 2020 This article reports a 13-year-old boy with phenylketonuria and multiple superficial mucoceles on his lower lip. Phenylketonuria (PKU) is a serious and rare genetic disorder that affects the levels of amino acids such as phenylalanine in the body.
Mahsa Alavi Namvar +2 more
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A Central Somatic Transmission Mediates Proprioceptive Facilitation of Muscle Pain
Advanced Science, EarlyView.Zhang et al. uncover a novel central mechanism for persistent muscle pain, in which TRPA1 sensitization in MeV proprioceptive neurons enhances somatic secretion. This, in turn, disinhibits descending pain control from neighboring noradrenergic locus coeruleus neurons via local GABAergic circuits, thereby promoting inflammatory muscle pain.
Xiaoyu Zhang +15 more
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Journal of Pediatrics Review, 2022 Background: Phenylketonuria is a metabolic disorder resulting from a defect in phenylalanine metabolism with a global prevalence of 1 in 10000. Delayed initiation of dietary modification leads to brain injury and cognitive and behavioral problems.
Tayebeh Chahkandi +4 more
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Frontiers in Neurology, 2019 Phenylketonuria is a hereditary metabolic disorder due to the deficiency of tetrahydrobiopterin or phenylalanine hydroxylase. Delayed diagnoses of it manifest a progressive irreversible neurological impairment in the early years of the disease.
Shuna Chen +4 more
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Highly Biomimetic Ectodermal Epithelial Organoids for Epithelial Barrier Stimulation Assays
Advanced Science, EarlyView.ABSTRACT Evaluating the potential toxicity of pharmaceuticals and biomaterials to ectodermal epithelia, such as the oral mucosa and skin, is indispensable in pre‐clinical assessments. However, this remains a challenge primarily owing to the lack of physiologically relevant and accurate screening models.
Yiming Chen +13 more
wiley +1 more source
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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