Results 41 to 50 of about 30,878 (268)
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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Advanced Science, EarlyView.DECENT is a deep learning method that enhances noninvasive preimplantation genetic testing by accurately reconstructing embryonic copy number variations (CNVs) from cell‐free DNA in spent embryo culture media. By mitigating maternal contamination, DECENT improves diagnostic accuracy, even with high contamination levels, offering a reliable, noninvasive
Zhenyi Zhang +3 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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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
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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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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Advanced Intelligent Systems, EarlyView.A memristor‐based associative learning circuit is presented for real‐time, fault‐tolerant sensor fusion in autonomous systems. The circuit mimics biological learning to recognize driving scenarios even with missing or degraded sensor inputs. Its low‐power, analog architecture enables robust decision‐making across diverse conditions, offering a ...
Kapil Bhardwaj +3 more
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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
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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
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
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