Results 81 to 90 of about 1,246 (204)

Comparative Analysis of Dietary Patterns in Children With Phenylketonuria Phenotypes and Controls: Implications for Nutritional Status

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Individuals with phenylketonuria (PKU), caused by different variants of the phenylalanine hydroxylase gene, need to restrict their intake of phenylalanine. This study evaluated dietary patterns and physical activity levels in children with different PKU phenotypes compared to healthy controls. Eighty‐two children were recruited (22 classic PKU
Dolores Garcia‐Arenas, Aida Ormazabal, Paula Isern, Blanca Barrau‐Martinez, Arnau Gonzalez‐Rodriguez, Alba Tor‐Roca, Rafael Llorach, Jaume Campistol‐Plana, Mireia Urpi‐Sarda, Consortium PKU.cat.   +9 more
wiley   +1 more source

Long‐Term Safety and Efficacy of Pegvaliase in Japanese Adults With Phenylketonuria: Final Results of a Phase III Trial

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT Phenylketonuria (PKU) is an inborn error of metabolism leading to phenylalanine (Phe) accumulation and consequent neurological, neurocognitive, and psychiatric symptoms. Pegvaliase, a pegylated recombinant phenylalanine ammonia lyase that metabolizes Phe, effectively reduced blood Phe in phase III studies in the United States. This multicenter,
Yoko Nakajima, Mika Ishige, Tetsuya Ito, Takashi Hamazaki, Mitsuhiro Kuwahara, Lawrence Lee, Haruo Shintaku   +6 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

Avaliação do consumo alimentar de lactentes com fenilcetonúria em uso de aleitamento materno [PDF]

, 2007
Breast-feeding in phenylketonuria (PKU) is a established technique and now is spreading in some countries. But there are few researches about the real intake of nutrients when it is used.
Jacqueline Siqueira Santos
core  

Transition From Land to Sea: Comparative Genomics Illuminates the Adaptive Evolution of the Intertidal Spider

Molecular Ecology Resources, Volume 26, Issue 4, May 2026.
ABSTRACT Spiders are renowned for their ecological versatility and silk‐based innovations in materials science, yet marine environments remain virtually uncolonized by this predominantly terrestrial lineage. A striking exception is the obligate intertidal spider genus Desis, whose members have evolved extraordinary physiological and behavioural ...
Fan Li, Yunyun Lv, Chao Bian, Quentin Moana Perrin, Yubo Zhang, Yixiao Wang, Lei Cao, Long Yu, Shengtao Guo, Wei Zhang, Qiong Shi, Daiqin Li   +11 more
wiley   +1 more source

Inferring Gene Regulatory Network Architecture Underlying Complex Traits: An Integrative Analysis of Mutant Lifespan and Gene Expression Profiles Identifies Master Regulators and Key Functional Modules for Yeast Aging

Aging Cell, Volume 25, Issue 5, May 2026.
We developed a LASSO‐based approach to uncover a three‐layered “fan‐in fan‐out” network architecture for complex traits like yeast aging, showing that peripheral genes influence lifespan indirectly through master regulators, which converge on core functional modules (e.g., stress response, autophagy).
Meng Ma, Juan Long, Yuting Chen, Yanqiu Shao, Man Zhu, Jiashun Zheng, Lu Yang, Yin Xiao, Matt Kaeberlein, Brian K. Kennedy, Yi Zheng, Hao Li, Jing Yang   +12 more
wiley   +1 more source

Predicting controlled vocabulary based on text and citations: Case studies in medical subject headings in MEDLINE and patents [PDF]

, 2019
This dissertation makes three contributions in the area of controlled vocabulary prediction of Medical Subject Headings. The first contribution is a new partial matching measure based on distributional semantics.
Kehoe, Adam K.
core  

New challenges in management of phenylketonuria in pregnancy: a case report. [PDF]

J Med Case Rep, 2023
Ugalde-Abiega B, Stanescu S, Belanger A, Martinez-Pardo M, Arrieta F.   +4 more
europepmc   +1 more source

Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review

British Journal of Pharmacology, Volume 183, Issue 9, Page 1779-1813, May 2026.
Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos, Stavros Topouzis, Steve P. H. Alexander, Miriam M. Cortese‐Krott, Zsuzsanna Helyes, Kirill Martemyanov, Claudio Mauro, Nithyanandan Nagercoil, Reynold A. Panettieri Jr, Hemal H. Patel, Rainer Schulz, Barbara Stefanska, Gary J. Stephens, Nathalie Vergnolle, Xin Wang, Stephen Ward, Péter Ferdinandy   +16 more
wiley   +1 more source

Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT Clinical trials for rare diseases face a fundamental mathematical challenge that conventional randomized controlled trial (RCT) designs cannot overcome. With approximately 95% of the estimated 10,000–16,000 rare diseases lacking approved therapies, and drug development programs failing at rates exceeding 75% in non‐oncology indications, the ...
Marshall L. Summar, Janet Woodcock
wiley   +1 more source