Results 61 to 70 of about 528,073 (147)

Adherence to Treatment of Phenylketonuria

Journal of Inborn Errors of Metabolism and Screening, 2015
Introduction: Phenylketonuria (PKU) is caused by the deficient activity of phenylalanine hydroxylase. Aim: To identify the factors associated with treatment adherence among patients with PKU seen at a southern Brazil reference center.
Tatiane Alves Vieira, Tatiéle Nalin, Bárbara Correa Krug, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Ida Vanessa Doederlein Schwartz   +5 more
doaj   +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

The 3‐Hit Metabolic Signaling Model for Autism Spectrum Disorder: A Summary

Autism Research, Volume 19, Issue 5, May 2026.
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

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 623-635, May 2026.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

A Method to Estimate Health Effects Based on Error‐Prone Simulated Environmental Exposure: An Application to a Multi‐Country Study on Birthweight and Fine Particulate Matter

GeoHealth, Volume 10, Issue 5, May 2026.
Abstract Earth System Models provide spatiotemporally continuous environmental exposure data but remain underused in environmental epidemiology because of uncertainty from measurement errors. We developed a novel latent‐variable approach to correct for measurement error characterized by spatiotemporal error covariance, which was derived from ...
Jinting Guo, Ning Kang, Jianyu Deng, Minghao Qiu, Tao Xue   +4 more
wiley   +1 more source

Can SARS-CoV-2 Be a Potential Cause of Microcephaly?

Çocuk Dergisi
Dear Editor, Microcephaly (MC) is defined as a head circumference with a standard deviation score (SDS) below -2 according to some experts and below -3 according to others (1-3).
Gonca Keskindemirci, Alev Bakır Kayı, Öykü Özbörü Aşkan, Emine Gülbin Gökçay   +3 more
doaj   +1 more source

Development of national consensus statements on food labelling interpretation and protein allocation in a low phenylalanine diet for PKU

Orphanet Journal of Rare Diseases, 2019
Background In the treatment of phenylketonuria (PKU), there was disparity between UK dietitians regarding interpretation of how different foods should be allocated in a low phenylalanine diet (allowed without measurement, not allowed, or allowed as part ...
British Inherited Metabolic Diseases Group (BIMDG) Dietitians Group, Sharon Evans, Suzanne Ford, Sarah Adam, Sandra Adams, Jane Ash, Catherine Ashmore, Gillian Caine, Rachel Carruthers, Sarah Cawtherley, Satnam Chahal, Anne Clark, Barbara Cochrane, Anne Daly, Karen Dines, Marjorie Dixon, Carolyn Dunlop, Charlotte Ellerton, Moira French, Lisa Gaff, Cerys Gingell, Diane Green, Joanna Gribben, Anne Grimsley, Paula Hallam, Una Hendroff, Melanie Hill, Rachel Hoban, Sarah Howe, Inderdip Hunjan, Kit Kaalund, Eimear Kelleher, Farzana Khan, Steve Kitchen, Karen Lang, Sharan Lowry, Jo Males, Georgina Martin, Nicola McStravick, Avril Micciche, Camille Newby, Claire Nicol, Rachel Pereira, Louise Robertson, Kathleen Ross, Emma Simpson, Kath Singleton, Rachel Skeath, Jacqueline Stafford, Allyson Terry, Ruth Thom, Alison Tooke, Karen vanWyk, Fiona White, Lucy White, Anita MacDonald   +55 more
doaj   +1 more source

Engineering Lipid Nanoparticles for Precision RNA Delivery: Design Principles, Targeting Strategies, and Clinical Prospects

Cancer Nexus, Volume 2, Issue 2, April 2026.
ABSTRACT Lipid nanoparticles (LNPs) represent the most clinically advanced platform for RNA delivery and have enabled major breakthroughs in vaccines and gene therapies. However, their broader application is still limited by inefficient extrahepatic delivery, immunogenicity, and insufficient control over tissue‐ and cell‐specific targeting. This review
Yu Han, Ying Wang, Xintao Gao, Yan Lei, Yantao Li, Zhiyong Tang   +5 more
wiley   +1 more source

Tetralogy of Fallot

Orphanet Journal of Rare Diseases, 2009
Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic ...
Anderson Robert H, Bailliard Frederique
doaj   +1 more source

Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked?

, 2013
International audienceIn our phenylketonuria (PKU) cohort of 120 patients, we uncovered a couple of cases of undiagnosed mild phenylketonuria (mPKU)/hyperphenylalaninemia (mHPA) in maternal parents of the PKU cohort.
Feillet, F., Leheup, B., Battaglia-Hsu, F., Jonveaux, P., Jeannesson, E., Wiedemann, A.   +5 more
core   +1 more source