Results 91 to 100 of about 17,388 (185)
A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases
Molecular Genetics &Genomic Medicine, Volume 13, Issue 12, December 2025.We analyze rare diseases with common presentations to reexamine genetic testing principles. In proposing criteria that emphasize patient capacity, test utility, and proportional invasiveness, we highlight gaps between guidelines and current practice. Coordinated, patient‐centered approaches are critical to maximize benefits, minimize harms, and inform ...
Rajeev Dutta +3 more
wiley +1 more source
Effect of Educational Program on Mothers’ Practices towards Caring for their Children Having Phenylketonuria [PDF]
, 2023 Amira Khalil Ibrahim +3 more
openalex +1 more source
VIEW, Volume 6, Issue 6, December 2025.A CD47‐targeted dual‐modal imaging probe combining positron emission tomography and second near‐infrared fluorescence enables precise preoperative tumor localization and intraoperative guidance for complete resection of breast cancer lesions, including metastases, offering a promising strategy to enhance surgical accuracy and improve clinical outcomes.
Jun Li +9 more
wiley +1 more source
Treatment of classical phenylketonuria. [PDF]
, 1968 Michelle McBean, John B.P. Stephenson
openalex +1 more source
Water Resources Research, Volume 61, Issue 12, December 2025.Abstract Accurately modeling active layer dynamics on the warming and wetting Qinghai‐Tibet Plateau (QTP) is crucial for understanding local hydrological processes, ecosystem dynamics, and infrastructure integrity. However, land surface models (LSMs) are often limited by simplified representation of physical processes in frozen ground and by uncertain ...
Yi Zhao +5 more
wiley +1 more source
Molecular Basis for the Phenotypic Diversity of Phenylketonuria [PDF]
, 1991 F. Güttler
openalex +1 more source
Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria [PDF]
, 2022 Raphaela Muri +8 more
openalex +1 more source
International Social Science Journal, Volume 75, Issue 258, Page 849-857, December 2025.ABSTRACT Feeding and swallowing disorders (FSDs) are common in both typically developing children and those with complex medical or developmental needs, leading to health issues and significant strain on parents/caregivers. This study aimed to translate and adapt the Feeding and Swallowing Impact Survey into Greek, providing a validated tool to assess ...
Andri Papaleontiou +5 more
wiley +1 more source
Founder effect of a prevalent phenylketonuria mutation in the Oriental population.
, 1991 T Wang +9 more
openalex +2 more sources
5-Hydroxytryptophan during critical postnatal period improves cognitive performances and promotes dendritic spine maturation in genetic mouse model of phenylketonuria [PDF]
, 2010 Diego Andolina +6 more
openalex +1 more source