Results 41 to 50 of about 26,955 (257)

Effect of Delayed Diagnosis of Phenylketonuria With Imaging Findings of Bilateral Diffuse Symmetric White Matter Lesions: A Case Report and Literature Review

open access: yesFrontiers 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
doaj   +1 more source

Multiple superficial mucoceles on the lower lip of a patient with phenylketonuria: A case report

open access: yesJournal 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

open access: yesAdvanced 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

open access: yesВопросы 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)

open access: yesActa 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
doaj   +1 more source

QUANTITATIVE COMPOSITION OF ESSENTIAL L-AMINO ACIDS IN BLENDED THERAPEUTIC DIETARY PRODUCTS FOR PEOPLE WITH PHENYLKETONURIA

open access: yesВісник 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

In Vivo Dynamic Coronary Arteries Blood Flow Imaging Based on Multi‐Cycle Phase Clustering Ultrafast Ultrasound

open access: yesAdvanced 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]

open access: yesTaṣvīr-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

open access: yesOrphanet 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

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

open access: yesAmerican 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

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