Results 51 to 60 of about 32,659 (306)
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 Healthcare Materials, EarlyView.This study reports an in vivo self‐assembled siRNA strategy that enables the liver to generate small extracellular vesicles (sEVs) tagged with a muscle‐targeting peptide (MSP) and naturally loaded with myostatin (MSTN)‐siRNA. These MSP‐tagged sEVs are systemically delivered to skeletal muscle, efficiently silence MSTN, promote muscle hypertrophy, and ...
Xin Yin +14 more
wiley +1 more source
Phenylketonuria: Genes in Phenylketonuria, Diagnosis, and Treatments [PDF]
SSRN Electronic Journal, 2019 Introduction: Phenylketonuria (PKU) is a rare autosomal-recessive disorder inherited in accordance with the law of segregation. Detection tools for people with PKU can include Sanger Sequencing (SS) and Next Generation Sequencing (NGS). Diet therapy, Large Neutral Amino Acids (LNAA), and Specific Nutrient Combination (SNC) can help alleviate people ...
openaire +2 more sources
Seeing inside the Body Using Wearable Sensing and Imaging Technologies
Advanced Healthcare Materials, EarlyView.This review explores wearable technologies for noninvasive internal health monitoring. It categorizes approaches into indirect sensing (e.g., bioelectrical and biochemical signals) and direct imaging (e.g., wearable ultrasound and EIT), highlighting multimodal integration and system‐level innovation toward personalized, continuous healthcare.
Sumin Kim +3 more
wiley +1 more source
Genetics of Phenylketonuria: Then and Now
Human Mutation, 2016 More than 950 phenylalanine hydroxylase (PAH) gene variants have been identified in people with phenylketonuria (PKU). These vary in their consequences for the residual level of PAH activity, from having little or no effect to abolishing PAH activity ...
N. Blau
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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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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 Healthcare Materials, EarlyView.Recent advances in diagnostics have accelerated the development of miniaturized wearable technologies for the continuous monitoring of diseases. This paradigm is shifting healthcare away from invasive, centralized blood tests toward decentralized monitoring, using alternative body biofluids.
Lanka Tata Rao +2 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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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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