Results 71 to 80 of about 17,388 (185)

Phenylketonuria screening in Iranian newborns: a systematic review and meta-analysis [PDF]

, 2020
Mehdi Shokri, Parviz Karimi, Hadis Zamanifar, Fatemeh Kazemi, Gholamreza Badfar, Milad Azami   +5 more
openalex   +1 more source

How Different Patterns of Policy Attention Drive Policy Diffusion: Evidence From China's River Chief System

Policy Studies Journal, EarlyView.
ABSTRACT Despite extensive research on policy diffusion, the ways in which policy attention influences this process remain underexplored. This study addressed this gap by distinguishing between three types of policy attention—political speeches, policy issuance and field visits—and investigating their differential impacts when delivered by central and ...
Xiangning Chen, Yahua Wang
wiley   +1 more source

Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Inherited metabolic disorders (IMDs) encompass a diverse and expanding group of rare diseases caused by genetic disruptions mainly in metabolic enzymes and transporters. Clinical diagnosis of IMDs presents significant challenges due to phenotypic heterogeneity, nonspecific symptoms, and the limited scope of current targeted biochemical assays ...
Jonathan Martens, Udo F. H. Engelke, Ron A. Wevers, Dirk J. Lefeber, Purva Kulkarni   +4 more
wiley   +1 more source

Neuropsychiatric Function Improvement in Pediatric Patients with Phenylketonuria [PDF]

, 2023
Mitzie Grant, Elaina Jurecki, Shawn E. McCandless, Stephen M. Stahl, Deborah A. Bilder, Amarilis Sanchez‐Valle, David Dimmock   +6 more
openalex   +1 more source

From Control to Optimisation: Evolving Strategies in the Nutritional Management of Inborn Errors of Protein Metabolism

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Undoubtedly the nutritional management of inborn errors of protein metabolism (IEPM) has improved since the early 1950s, but it is still associated with significant patient burden. The pace of development has not kept up with the increasing demands of the ‘real world’ or development in other areas of medicine. It is essential that research and
Júlio César Rocha, Anne Daly, Anita MacDonald   +2 more
wiley   +1 more source

172. Therapeutic Thresholds for Liver-Directed Gene Therapy of Phenylketonuria (PKU) [PDF]

, 2009

openalex   +1 more source

International Survey on Phenylketonuria Newborn Screening

International Journal of Neonatal Screening
Newborn screening for Phenylketonuria enables early detection and timely treatment with a phenylalanine-restricted diet to prevent severe neurological impairment.
Domen Trampuž, Peter C. J. I. Schielen, Rolf H. Zetterström, Maurizio Scarpa, François Feillet, Viktor Kožich, Trine Tangeraas, Ana Drole Torkar, Matej Mlinarič, Daša Perko, Žiga Iztok Remec, Barbka Repič Lampret, Tadej Battelino, ISNS Study Group on PKU, Francjan J. van Spronsen, James R. Bonham, Urh Grošelj   +16 more
doaj   +1 more source

Normalizing Diet in Individuals with Phenylketonuria Treated with Pegvaliase: A Case Series and Patient Perspective

Nutrition and Dietary Supplements, 2021
Laurie Bernstein,1,2 Joyanna Hansen,3 Christian Kogelmann,4 Margret Ellerbrok,4 Maria Gizewska,5 Sommer Gaughan,6 Julio Cesar Rocha,7– 9 Amaya Belanger,10 Fran Rohr2 1Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of ...
Bernstein L, Hansen J, Kogelmann C, Ellerbrok M, Gizewska M, Gaughan S, Rocha JC, Belanger A, Rohr F   +8 more
doaj  

Connecting the Dots: Bridging Microsamples and Conventional Blood Matrices in Metabolic Biomarker Analysis

Analytical Science Advances, Volume 6, Issue 2, December 2025.
ABSTRACT Bridging the gap between microsampling techniques and standard blood matrices presents a groundbreaking opportunity in metabolic biomarker analysis, offering minimally invasive, patient‐centric alternatives to traditional venipuncture. This review presents the current knowledge obtained from the comparison of biomarkers analysis in liquid ...
Marlene Thaitumu, Vasiliki Gkanali, Georgios Theodoridis, Helen Gika   +3 more
wiley   +1 more source

Zebrafish: A Versatile and Powerful Model for Biomedical Research

BioEssays, Volume 47, Issue 12, December 2025.
Zebrafish are vital for advancing precision medicine, offering a genetically tractable and optically transparent vertebrate model with strong genetic homology to humans. They enable rapid and cost‐effective disease modeling and drug discovery, accelerating insights into cardiovascular, neurological, metabolic, and oncological disorders through gene ...
Sundus Siddiqui, Hiba Siddiqui, Emna Riguene, Michail Nomikos   +3 more
wiley   +1 more source