Results 31 to 40 of about 26,955 (257)

Cardiac Magnetic Resonance Reveals Incipient Cardiomyopathy Traits in Adult Patients With Phenylketonuria

open access: yesJournal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2021
Background Phenylketonuria is the most common inborn error of amino acid metabolism, where oxidative stress and collateral metabolic abnormalities are likely to cause cardiac structural and functional modifications.
Radu Tanacli   +14 more
doaj   +1 more source

The neurological and psychological phenotype of adult patients with early‐treated phenylketonuria: A systematic review

open access: yesJournal of Inherited Metabolic Disease, 2019
Newborn screening for phenylketonuria (PKU) and early introduction of dietary therapy has been remarkably successful in preventing the severe neurological features of PKU, including mental retardation and epilepsy. However, concerns remain that long‐term
A. Burlina   +6 more
semanticscholar   +1 more source

Phenylketonuria: Genes in Phenylketonuria, Diagnosis, and Treatments [PDF]

open access: yesSSRN 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   +3 more sources

The Effect of Empowerment Program for Nurses Regarding Management of Children with Phenylketonuria

open access: yesEvidence-Based Nursing Research
Context: Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. If PKU did not diagnose early in life or the affected children with PKU do not be compliant with the ...
Khadiga M. Said, Safaa F. Draz
doaj   +1 more source

Epidemiologic view of phenylketonuria (PKU) in Latinamerica

open access: yesActa Pediátrica de México, 2014
Latin America is a region conformed by 20 countries characterized by a wide diversity among them, which can be demonstrated through several indicators such as rural population percentage, ethnicity, public health budget allocated and infant mortality ...
Gustavo JC Borrajo
doaj   +1 more source

THE IMPORTANCE OF DIET THERAPY IN THE TREATMENT OF PHENYLKETONURIA: A CASE REPORT

open access: yesElektronički Zbornik Radova Veleučilišta u Šibeniku, 2022
Phenylketonuria is the most common inborn error of amino acid metabolism. It is caused by the impossibility of converting the essential amino acid phenylalanine into tyrosine, most often due to insufficient production or a complete lack of the enzyme ...
Nikolina Gaćina, Jerko Vučak
doaj   +1 more source

Genetics of Phenylketonuria: Then and Now

open access: yesHuman 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
semanticscholar   +1 more source

Genetic Deconvolution of Embryonic and Maternal Cell‐Free DNA in Spent Culture Medium of Human Preimplantation Embryo Through Deep Learning

open access: yesAdvanced 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
wiley   +1 more source

Assessing Phenylalanine Blood Level in Children With Phenylketonuria in Southern Khorasan Province and Determining the Affecting Social and Demographic Factors

open access: yesJournal 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
doaj  

Comprehensive Characterization of Bihormonal Cells and Endocrine Cell Lineages in Mammalian Pancreatic Islets

open access: yesAdvanced Science, EarlyView.
This study integrates dual‐reporter genetics, imaging flow cytometry, and single‐cell sequencing to characterize rare bihormonal cells in mouse and human pancreatic islets. Gcg⁺Ins⁺ cells resemble α‐cells rather than transitional states. Cross‐species gene network analysis refines islet cell taxonomy and reveals human‐specific δ‐cell subtypes ...
Xin‐Xin Yu   +10 more
wiley   +1 more source

Home - About - Disclaimer - Privacy