Results 51 to 60 of about 25,962 (237)
Advanced Science, EarlyView.ABSTRACT Engineered ascorbate peroxidase APEX2 has been widely used for spatially restricted profiling of subcellular biomolecules, but its catalytic efficiency toward newly developed probes such as biotin‐aniline (Btn‐An) remains suboptimal. To overcome this limitation, we performed yeast surface display‐based directed evolution to enhance APEX2 ...
Gang Wang, Yi Li, Peiyuan Meng, Peng Zou
wiley +1 more source
Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams +8 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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Animal Models and Experimental Medicine, EarlyView.We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang +14 more
wiley +1 more source
The 3‐Hit Metabolic Signaling Model for Autism Spectrum Disorder: A Summary
Autism Research, EarlyView.ABSTRACT Autism spectrum disorder (ASD) is a highly heritable yet environmentally sensitive neurodevelopmental condition whose biological heterogeneity has resisted a unifying causal explanation for over 100 years. The 3‐hit metabolic signaling model proposes that ASD arises from abnormal persistence of an evolutionarily conserved stress‐response ...
Robert K. Naviaux
wiley +1 more source
A late-diagnosed phenylketonuria case presenting with autism spectrum disorder in early childhood
The Turkish Journal of Pediatrics, 2016 Phenylketonuria is one of the most prevalent autosomal recessive hereditary disorders in Turkey. If untreated, it results in severe brain damage and can also be associated with autism in certain patients.
Betül Mazlum +5 more
doaj +1 more source
THE IMPORTANCE OF DIET THERAPY IN THE TREATMENT OF PHENYLKETONURIA: A CASE REPORT
Elektronički 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
Communicative and psycholinguistic abilities in children with phenylketonuria and congenital hypothyroidism [PDF]
, 2009 The Neonatal Screening for Inborn Errors of Metabolism of the Association of Parents and Friends of Special Needs Individuals (APAE) - Bauru, Brazil, was implanted and accredited by the Brazilian Ministry of Health in 1998.
ANASTÁCIO-PESSAN, Fernanda da Luz +4 more
core +3 more sources
Cold atmospheric plasma‐mediated tumor microenvironment remodeling for cancer treatment
BMEMat, EarlyView.Schematic presentation of CAP‐mediated TME remodeling. This review summarizes recent efforts in cold atmospheric plasma (CAP) application in cancer treatment, highlighting the anticancer potential of CAP, molecular mechanisms, and future perspectives for further improvement and clinical translation.
Israr Khan +8 more
wiley +1 more source
The Iowa Perinatal Letter, April-May-June 2008, Vol. 29, no. 2 [PDF]
, 2008 This newsletter from The Department of Public Health about perinatal health care and ...
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