Results 81 to 90 of about 8,658 (196)

Personalized Genotype‐Based Approach for Treatment of Phenylketonuria

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
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 ...
Polina Gundorova, Behnam Yousefi, Mathias Woidy, Malcolm Summer Rose‐Heine, Robin Khatri, Viviane Kasten, Stefan Bonn, Ania Carolina Muntau, Soeren Waldemar Gersting   +8 more
wiley   +1 more source

Correction: Mothers’ lived experience of caring for children with inborn errors of amino acid metabolism

BMC Pediatrics, 2023
Sara Shirdelzade, Monir Ramezani, Peyman Eshraghi, Abbas Heydari   +3 more
doaj   +1 more source

Profile of inborn errors of metabolism among the neonates admitted in special newborn care unit of a tertiary care hospital

Asian Journal of Medical Sciences
Background: Inborn errors of metabolism (IEM) refer to a group of hereditary disorders that occur due to the disruption of normal biochemical processes in the body. Although the incidence of IEM is rare, together their incidence is more than 1:1000.1 IEM
Kushal Mandal , Sushama Sahoo , Sarbani Misra , Bharat Lal Kisku   +3 more
doaj   +1 more source

Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience

JIMD Reports
Background Classic homocystinuria (HCU) is a rare inborn metabolic disease that is generally asymptomatic at birth. If untreated, it can cause a wide range of complications including intellectual disability, lens dislocation, and thromboembolism.
Ahmed Sarar Mohamed, Talal AlAnzi, Amal Alhashem, Hadeel Alrukban, Fahad Al Harbi, Sarar Mohamed   +5 more
doaj   +1 more source

Identification and application of herbicide‐resistant 4‐hydroxyphenylpyruvate dioxygenase (HPPD) alleles via directed evolution

Plant Biotechnology Journal, EarlyView.
Bingbing Zhao, Yao Wang, Miaoyi Zhou, Xinxiang Liu, Hanshuai Li, Zi Shi, Yuhui Guo, Ting Li, Fengling Yang, Ronghuan Wang, Jiuran Zhao, Ya Liu   +11 more
wiley   +1 more source

Parental Specific Expression by scRNA‐Seq Reveals HaWRKY40 Contributing to Heterosis of Sunflower

Plant Biotechnology Journal, EarlyView.
Yuliang Han, Juncheng Zhang, Maohong Cai, Siqi Zhang, Wenting Dai, Zhonghua Lei, Qixiu Huang, Lijun Xiang, Tao Chen   +8 more
wiley   +1 more source

Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study

JIMD Reports, Volume 66, Issue 5, September 2025.
ABSTRACT Achieving and maintaining metabolic control is critical for children with phenylalanine hydroxylase (PAH) deficiency. This retrospective longitudinal cohort study investigated metabolic control and monitoring frequency of children with PAH deficiency (≤ 12 years) treated at one of 12 pediatric metabolic centres across Canada.
Nataliya Yuskiv, Ammar Saad, Beth K. Potter, Sylvia Stockler‐Ipsiroglu, John J. Mitchell, Steven Hawken, Kylie Tingley, Michael Pugliese, Monica Lamoureux, Andrea J. Chow, Jonathan B. Kronick, Kumanan Wilson, Annette Feigenbaum, Sharan Goobie, Michal Inbar‐Feigenberg, Julian Little, Saadet Mercimek‐Andrews, Amy Pender, Chitra Prasad, Andreas Schulze, Yannis Trakadis, Gloria Ho, Hilary Vallance, Valerie Austin, Anthony Vandersteen, Andrea C. Yu, Cheryl Rockman‐Greenberg, Aizeddin A. Mhanni, Pranesh Chakraborty   +28 more
wiley   +1 more source

Systematic Multi‐Trait Study of Genetic Correlation and Causality Relationships Between General Medical Conditions and Mental Disorders

Acta Psychiatrica Scandinavica, Volume 152, Issue 3, Page 236-249, September 2025.
ABSTRACT Introduction Increasing evidence has highlighted bidirectional associations between mental disorders and general medical conditions, with underlying causes ranging from lifestyle habits and side effects from medications to genetic contributions. Novel methods now provide a way to estimate the shared genetic underpinnings and the possibility of
Ron Nudel, Maria Da Re, Michael E. Benros   +2 more
wiley   +1 more source

Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022

Frontiers in Genetics
Inborn errors of metabolism (IEMs) are uncommon. Although some studies have explored the distribution and characteristics of IEMs in newborns, the impact of these disorders on hospitalized newborns remains unclear. In this study, we gathered data from 21,
Dongjuan Wang, Juan Zhang, Rui Yang, Dayong Zhang, Ming Wang, Chaowen Yu, Jingli Yang, Wenxia Huang, Shan Liu, Shi Tang, Xiaoyan He   +10 more
doaj   +1 more source

Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

Clinical Genetics, Volume 108, Issue 3, Page 266-278, September 2025.
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl, Suchika Garg, Marie Monaghan, Amy Preston, Marcus Likeman, Julianne Dare, Julie Evans, Lucie S. Taylor, Ian Berry, Kathryn Urankar, Paul G. D. Spry, Cathy Williams, Robert W. Taylor, Charlotte L. Alston, James J. L. Hodge, Anirban Majumdar   +15 more
wiley   +1 more source