Results 111 to 120 of about 25,909 (224)

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  

Fuc‐S, a New Degraded Polysaccharide From Fucoidan, Alleviates Type 2 Diabetes‐Associated Liver Injury Through Modulating Gut Microbiota

Food Science &Nutrition, Volume 14, Issue 1, January 2026.
Fuc‐S alleviated type 2 diabetes‐associated liver injury through gut microbiota‐SCFA‐liver axis regulation. Fuc‐S treatment significantly improved glucose tolerance, lipid metabolism, and liver function, while reducing hepatic steatosis and serum ALT/AST levels. Fuc‐S reinforced intestinal barrier integrity by upregulating tight junction proteins (ZO‐1
Bin Du, Caihong Cheng, Jinxiu Feng, Yue Liang, Wang Tao, Baojun Xu, Jiao Peng, Guangtao Zhang, Yuedong Yang   +8 more
wiley   +1 more source

No QTcF Prolongation with Sepiapterin: Results From a Thorough QT Study in Healthy Subjects at Therapeutic and Supratherapeutic Doses

The Journal of Clinical Pharmacology, Volume 66, Issue 1, January 2026.
Abstract Sepiapterin and its major metabolite 6R‐L‐erythro‐5,6,7,8‐tetrahydrobiopterin (BH4) bind to distinct variants of phenylalanine hydroxylase (PAH), which converts excess phenylalanine to tyrosine, thereby stabilizing, enhancing, and prolonging PAH activity.
Lan Gao, Hongqi Xue, Borje Darpo, Kimberly Ingalls, Diksha Kaushik, Neil Smith, Ronald Kong, Lee Golden   +7 more
wiley   +1 more source

Synthesis of 6β-N(5)-Methyl-5,6,7,8-tetrahydro-L-biopterin

Pteridines, 1993
Summary 6β-N(5)-methyl-5.6J,8-tetrahydro-L-biopterin·2 HC1. a new derivate of biological interest, was synthesized from 6β-5,6,7,8-tetrahydro-L-biopteril·2 HC1 and characterized.
Bosshard Rene, Heizmann Claus W., Viscontini Max   +2 more
doaj   +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

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

Screening of internationally adopted children [PDF]

, 1994
Currently, we have no local generally agreed guidelines for the examination of children adopted overseas. Out of 163 adopted children, who were brought into Malta between January 1991 and June 1992, 140 (86%) were seen at the children’s Outpatient ...
Dalmas, Miriam, Lenicker, Herbert Manfred, Portelli, Alfred V., Vassallo Agius, Paul   +3 more
core  

Targeted Carrier Screening for Thalassemia, Hereditary Deafness, and Spinal Muscular Atrophy: A Feasible Approach for Preventing Birth Defects in China's Community Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
Current carrier screening primarily focuses on high detection rates and broad testing ranges. We approach the issue from the perspective of a community physician, evaluating the suitability of carrier screening based on factors such as cost, ease of report interpretation, and compliance issues.
Zhihui Wang, Wenjing Bai, Xiaohe Cai, Sheng Huang, Jiangzhong Zeng, Xiaoting Liang, Xutao Hong   +6 more
wiley   +1 more source

Navigating the Belt and Road, and Beyond: Education‐Migration and Aspirational Pathways Among Internationally Mobile Chinese Young People in Southeast Asia

Population, Space and Place, Volume 32, Issue 1, January 2026.
ABSTRACT Chinese student mobilities within Asia have expanded significantly amid the Belt and Road Initiative (BRI) and shifting geopolitical conditions. This paper examines Chinese youth studying in two prominent Southeast Asian destinations—Thailand and Singapore—to understand how their aspirations intersect with macro‐structural forces to shape ...
Kris Hyesoo Lee, Yi′En Cheng, Sivarin Lertpusit, Yun Ge, Brenda S. A. Yeoh, Kong Chong Ho   +5 more
wiley   +1 more source

Delays in Newborn Screening for Phenylketonuria from Birth to Diagnosis and Factors Affecting This

Children
This study aims to evaluate the process of neonatal phenylketonuria (PKU) screening from birth to admission to the pediatric metabolism polyclinic, determining delays in the screening program and the factors influencing them.
Banu Kadıoğlu Yılmaz, Zafer Bağcı
doaj   +1 more source