Results 41 to 50 of about 26,955 (257)
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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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
doaj +1 more source
Oscillating Magnetic Field Induced Bone Injury Repair by using Drug‐Free Micromotors
Advanced Science, EarlyView.This work presents a payload‐free, minimally invasive approach for bone repair using magnetic hydrogel micromotors, which enhance bone regeneration via localized micromovement stimulation, achieving a twofold increase in new bone formation in vivo. Abstract Bone injury repair remains a significant clinical challenge due to the tissue's limited self ...
Jie Shen +8 more
wiley +1 more source
PHENYLKETONURIA IN CHILDREN: DIAGNOSTICS, CLINIC, TREATMENT
Вопросы современной педиатрии, 2010 At the present times there is a quickened interest in hereditary metabolic diseases that can be revealed by neonatal screening. The list of these diseases includes a phenylketonuria.
T.V. Bushuyeva
doaj +2 more sources
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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Вісник проблем біології і медицини, 2022 Phenylketonuria is one of the most common genetic diseases among the European population that manifests by increased blood phenylalanine content. It has been proven that diet therapy by restricting or excluding phenylalanine is vital for this group of ...
Kolinko L. M. +2 more
doaj +1 more source
Advanced Science, EarlyView.This study addresses a critical gap in ultrafast ultrasound cardiovascular flow imaging and introduces a transformative approach, Clustering Singular Value Decomposition (cSVD), which enables dynamic cardiovascular flow imaging throughout full cardiac cycle without motion correction and hyper‐fast imaging strategies.
Hao Yu +6 more
wiley +1 more source
Distribution Occurrence of Phenylketonuria in the World: A Systematic Review and Meta-Analysis [PDF]
Taṣvīr-i salāmat, 2016 Background and objectives : Phenylketonuria (PKU) is a metabolic error which is caused by the deficiency of phenylalanine hydroxylase (PAH) inverting phenylalanine to tyrosine. This disease is the most common form of hyperphenyalaninaemia stow which is
Parastoo Moradi +6 more
doaj
The cardiovascular phenotype of adult patients with phenylketonuria
Orphanet Journal of Rare Diseases, 2019 BackgroundPatients with Phenylketonuria (PKU) are exposed to multiple cardiovascular risk factors, but the clinical significance of these abnormalities is yet unknown.
Aline Azabdaftari +5 more
semanticscholar +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo +4 more
wiley +1 more source