Results 1 to 10 of about 7,455 (171)

Personalized Genotype-Based Approach for Treatment of Phenylketonuria. [PDF]

J Inherit Metab Dis
Modeling the residual enzyme activity of PAH genotypes allows for personalized prediction of patient phenotype and BH4‐treatment response. ABSTRACT Extensive studies have examined the clinical manifestations, pathogenic mechanisms, and genetic variations of phenylketonuria (PKU) across different populations, resulting in a substantial collection of ...
Gundorova P, Yousefi B, Woidy M, Rose-Heine MS, Khatri R, Kasten V, Bonn S, Muntau AC, Gersting SW.   +8 more
europepmc   +2 more sources

Phenylketonuria

Nature Reviews Disease Primers, 2021
Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal recessive disorder of phenylalanine metabolism, in which especially high phenylalanine concentrations cause brain dysfunction. If untreated, this brain dysfunction results in severe intellectual disability, epilepsy and behavioural problems.
Francjan J, van Spronsen, Nenad, Blau, Cary, Harding, Alberto, Burlina, Nicola, Longo, Annet M, Bosch   +5 more
openaire   +5 more sources

Intestinal peroxisome proliferator‐activated receptor α‐fatty acid‐binding protein 1 axis modulates nonalcoholic steatohepatitis

Hepatology, EarlyView., 2022
Abstract Background and Aims Peroxisome proliferator‐activated receptor α (PPARα) regulates fatty acid transport and catabolism in liver. However, the role of intestinal PPARα in lipid homeostasis is largely unknown. Here, intestinal PPARα was examined for its modulation of obesity and NASH. Approach and Results Intestinal PPARα was activated and fatty
Tingting Yan, Yuhong Luo, Nana Yan, Keisuke Hamada, Nan Zhao, Yangliu Xia, Ping Wang, Changdong Zhao, Dan Qi, Shoumei Yang, Lulu Sun, Jie Cai, Qiong Wang, Changtao Jiang, Oksana Gavrilova, Kristopher W. Krausz, Daxesh P. Patel, Xiaoting Yu, Xuan Wu, Haiping Hao, Weiwei Liu, Aijuan Qu, Frank J. Gonzalez   +22 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   +3 more sources

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

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, Jie Qiao, Yidong Chen, Peijie Zhou   +3 more
wiley   +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, Rui He, Jiajun He, Lipeng Liao, Yongcan Huang, Shaoxiong Min, Xiaoreng Feng, Bin Chen, Ben Wang   +8 more
wiley   +1 more source

A Memristive Associative Learning Circuit for Fault‐Tolerant Multi‐Sensor Fusion in Autonomous Vehicles

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, Dmitrii Semenov, Roman Sotner, Sayani Majumdar   +3 more
wiley   +1 more source

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

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, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Transendocardial injection of expanded autologous CD34+ cells after myocardial infarction: Design of the EXCELLENT trial

ESC Heart Failure, Volume 12, Issue 2, Page 1455-1463, April 2025.
Abstract Aims The extent of irreversible cardiomyocyte necrosis after acute myocardial infarction (AMI) is a major determinant of residual left ventricular (LV) function and clinical outcome. Cell therapy based on CD34+ cells has emerged as an option to help repair the myocardium and to improve outcomes.
Jerome Roncalli, François Roubille, Nicolas Meyer, Giulio Pompilio, Lionel Leroux, Philippe Henon, Guillaume Trebuchet, Anthony Criquet, Matthieu de Kalbermatten, Eric Saloux, Alain Manrique, Pierre‐Yves Marie, Deepak L. Bhatt, Scott D. Solomon, Gilles Montalescot, David E. Newby, Faiez Zannad, on behalf of the EXCELLENT Trial Investigators   +17 more
wiley   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, EarlyView.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source