Results 51 to 60 of about 18,914 (186)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Crianças com fenilcetonúria: avaliação audiológica básica e supressão das otoemissões Children with phenylketonuria: basic audiological evaluation and suppression of otoacoustic emissions

Revista da Sociedade Brasileira de Fonoaudiologia, 2012
OBJETIVO: Avaliar a via auditiva de crianças com fenilcetonúria tratadas precocemente, por meio de audiometria, imitanciometria e supressão das emissões otoacústicas transientes. MÉTODOS:Estudo prospectivo transversal comparativo com amostra composta por
Patrícia Souza Ribeiro, Tatiana Lopes Torres, Ana Lúcia Pimenta Starling, Maria Cecília Martinelli Iório, Patrícia Cotta Mancini   +4 more
doaj   +1 more source

Impact of Fluorinated Ionic Liquids on Human Phenylalanine Hydroxylase—A Potential Drug Delivery System

Nanomaterials, 2022
Phenylketonuria (PKU) is an autosomal recessive disease caused by deficient activity of human phenylalanine hydroxylase (hPAH), which can lead to neurologic impairments in untreated patients.
Márcia M. S. Alves, Paula Leandro, Haydyn D. T. Mertens, Ana B. Pereiro, Margarida Archer   +4 more
doaj   +1 more source

Nutrition and Metabolic Diseases: A Systematic Review of Functional Foods, Medicinal Plants, Phytochemicals, Bioactive Compounds and Nutrients Effective Against Metabolic Diseases

Food Chemistry International, EarlyView.
The study demonstrates how functional foods, medicinal plants, phytochemicals, bioactive compounds and essential nutrients combat metabolic diseases. It highlights their mechanisms, including antioxidant, anti‐inflammatory, insulin‐sensitising, lipid‐regulating, gut microbiota‐modulating and mitochondrial‐enhancing effects, leading to improved ...
Chinaza Godswill Awuchi, Sana Noreen, Sonia Morya   +2 more
wiley   +1 more source

Difficulties in maintaining diet in patients with phenylketonuria [PDF]

, 2018
Phenylketonuria is the most common inborn error of amino acid metabolism. The defect is due to mutations in genes encoding enzymatic proteins, which result in deficient or impaired activity of phenylalanine hydroxylase, an enzyme responsible for ...
Bąk-Romaniszyn, Leokadia, Morawska, Kamila, Kamila Morawska, Leokadia Bąk-Romaniszyn, Ewa Starostecka, Starostecka, Ewa   +5 more
core   +1 more source

Development of a High‐Throughput Microarray Platform for Rapid, Low‐Cost Expanded Carrier Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To develop a customized expanded carrier screening (ECS) solution for 8271 variants of 265 genes. Based on a microarray platform, this solution demonstrates comparable accuracy to next‐generation sequencing (NGS) platform; however, it has a lower cost, a faster speed, and a simplified data—analysis process.
Jiazhen Chang, Na Hao, Xiya Zhou, Yan Lü, Mengmeng Li, Kaili Yin, Xueting Yang, Hanzhe Zhang, Yukun Ma, Yanqin You, Qingwei Qi, Yulin Jiang   +11 more
wiley   +1 more source

Reproductive experience of women living with phenylketonuria

Molecular Genetics and Metabolism Reports, 2018
Introduction: Many women with PKU are well-informed about the risks of maternal PKU but there are several barriers to achieving satisfactory metabolic control before and during pregnancy.
Suzanne Ford, Mike O'Driscoll, Anita MacDonald   +2 more
doaj   +1 more source

Comparison of phenylketonuria and control groups.

, 2016
Comparison of phenylketonuria and control groups.
Priscila Thiago Dobbler (2852063), Luiz Fernando Würdig Roesch (471704), Roberta Hack Mendes (2852051), Victor Salter Pylro (2852066), Sheldon G Waugh (2852057), Filippo Vairo (2852060), Ida Vanessa Doederlein Schwartz (2852072), Felipe Pinheiro de Oliveira (2852054), Volker Mai (288569), Lilia Farret Refosco (2852069)   +9 more
core   +1 more source

The efficacy of concurrent chemoradiotherapy with or without nimotuzumab in high‐risk patients with locally advanced head and neck squamous cell carcinoma post‐surgery: A real‐world study

Precision Radiation Oncology, EarlyView.
Figure 1 Patient selection flowchart. CCRT, concurrent chemoradiotherapy; NCCRT, nimotuzumab and concurrent chemoradiotherapy. Abstract Purpose Patients with locally advanced head and neck squamous cell carcinoma (LA‐HNSCC) harboring high‐risk pathological features after radical surgery face high recurrence rates.
Yuejia Zhou, Linting Zhang, Wenjuan Lai, Jingyun Tan, Jing Gao, Yajie Liu, Shubin Wang, Feng Peng, Gangling Tong   +8 more
wiley   +1 more source

Gliotic, nodular lesions in phenylketonuria: MR imaging findings

, 1996
Phenylketonuria represents one of the amino acid disorders. In this condition, and in other aminoacidurias, findings in MR imaging studies are generally nonspecific. We report a patient with phenylketonuria who had nodular lesions lesions associated with
Sener, RN, R.Nuri Sener
core   +1 more source