Results 41 to 50 of about 16,232 (245)

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, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source

Maternális phenylketonuria [Maternal phenylketonuria]

, 2013
Phenylketonuriában szenvedő várandós anya vérének emelkedett phenylalanin-koncentrációja a magzatra teratogén hatással van, embryo-foetopathiát okoz. Élveszülés esetén a kórkép jellemzői az intrauterin sorvadás, az általában jelentős fokú pszichomotoros ...
János Bókay, Kiss, Erika, Kiss Erika, Szőnyi László, Erika Simon, Erika Kiss, Bókay János, Simon Erika, Bókay, János, László Szőnyi, Szőnyi, László, Simon, Erika   +11 more
core   +1 more source

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, Sona Rafieyan, Behzad Fathi Afkari   +2 more
doaj   +1 more source

Recommendations on phenylketonuria in Turkey

The Turkish Journal of Pediatrics, 2022
Background. Phenylketonuria (PKU), is an autosomal recessive disease leading to the conversion defect of phenylalanine (Phe) into tyrosine. Severe neurocognitive and behavioral outcomes are observed in untreated cases.
Turgay Coşkun, Mahmut Çoker, Neslihan Önenli Mungan, Hülya Gökmen Özel, H Serap Sivri   +4 more
doaj   +1 more source

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

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, Mingqin Zhu, Yulei Hao, Jiachun Feng, Ying Zhang   +4 more
doaj   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

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, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Decoding RNA regulation: Challenges and opportunities for RNA‐based therapies in Europe

British Journal of Clinical Pharmacology, EarlyView.
Abstract RNA‐based medicinal products represent a promising frontier in personalised medicine, offering sequence‐specific disease targeting at various molecular levels, yet their clinical translation in the European Union (EU) may be hindered by regulatory uncertainty around definitions and evidence requirements; this study therefore aims to identify ...
Olivia C. Lewis, Christine Leopold, Joyce M. Hoek, Raymond M. Schiffelers, Marie L. De Bruin   +4 more
wiley   +1 more source

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, Qiujie Fang, Cao Fei, Ziyuan Wang, Zhaowei Chen, Guojun Chen, Zhiming Xu, Shu Xu, Zhitong Chen   +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, Behrooz Sari Sarraf, Zhila Khamnian, Roya Dolatkhah, Soraya Hadi, Dorna Ghafari, Saeid Dastgiri   +6 more
doaj  

Living Microbial Drugs

Chemistry – A European Journal, EarlyView.
The introduction outlines the review scope. Microbial cell factories as living drugs cover host–gut microbiota, bacteria, yeast, and other microbial systems, with comparative host advantages. Engineering strategies include synthetic circuits, quorum sensing, and memory.
Cemile Elif Özçelik, Nazlıcan Tunç, Senem Şen, Urartu Özgür Şafak Şeker   +3 more
wiley   +1 more source