Results 131 to 140 of about 32,659 (306)

Long-term correction of murine phenylketonuria by viral gene transfer: liver versus muscle [PDF]

, 2018
Current therapy for phenylketonuria (PKU) consists of life-long dietary restriction of phenylalanine (Phe), which presents problems of adherence for patients.
Thöny, Beat
core  

Design Strategies for Novel Lipid Nanoparticle for mRNA Vaccine and Therapeutics: Current Understandings and Future Perspectives

MedComm, Volume 6, Issue 10, October 2025.
This review summarizes strategies to optimize lipid nanoparticles (LNPs) for improved targeting, endosomal escape, and safety. It highlights mRNA design, alternative delivery systems, and recent therapeutic advances across infectious diseases, cancer, and drug applications.
Xiaochi Li, Junli Li, Jiazheng Wei, Weixin Du, Cheng Su, Xiaobin Shen, Aihua Zhao, Miao Xu   +7 more
wiley   +1 more source

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria

Annals of Nutrition and Metabolism, 2017
Introduction: In phenylketonuria (PKU), a natural protein-restricted dietary treatment prevents severe cognitive impairment. Nutrient deficiencies may occur due to strict diet. This study is aimed at evaluating the dietary intake and blood concentrations
S. Demirdas, F. V. van Spronsen, C. Hollak, J. H. van der Lee, P. Bisschop, F. Vaz, N. M. Ter Horst, M. Rubio-Gozalbo, A. Bosch   +8 more
semanticscholar   +1 more source

Phenylketonuria: A Comprehensive Review of Pathophysiology, Diagnosis, and Management Strategies

Quality in Sport
Introduction: Phenylketonuria (PKU) is a genetically determined congenital metabolic disorder characterized by the body's inability to properly metabolize the amino acid phenylalanine, which is ingested through food.
Agata Konopka, Zuzanna Szczepaniak, Natalia Wdowiak, Dominika Ziółkowska, Kinga Adamska, Karina Lissak   +5 more
doaj   +1 more source

Sclerosing diseases of the skin

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 10, Page 1282-1300, October 2025.
Summary Sclerosing skin diseases comprise a group of distinct dermatological conditions characterized by fibrotic changes that may severely impair patients’ quality of life. These conditions often present with cutaneous manifestations and, in some cases, may extend to extracutaneous tissues, potentially resulting in significant morbidity and mortality.
Yasamin Kalantari, Katharina Meier, Kamran Ghoreschi, Maria Kinberger, Farzan Solimani   +4 more
wiley   +1 more source

Phenylketonuria in New York State: Incidence and Prevalence [PDF]

, 1967
Sally Kelly, Joseph Palombi
openalex   +1 more source

Phenylketonuria [PDF]

BMJ, 1963
J D, ALLAN, K S, HOLT, F P, HUDSON, J T, IRELAND   +3 more
openaire   +2 more sources

N‐lactoyl amino acids are potential biomarkers for insulin resistance and diabetic complications

Diabetes, Obesity and Metabolism, Volume 27, Issue 10, Page 5793-5804, October 2025.
Abstract Aims N‐lactoyl amino acids (Lac‐AA) are emerging as crucial players in metabolic research, with potential implications for disease mechanisms and therapeutic interventions. This study exploress the role of Lac‐AA in insulin resistance, type 2 diabetes (T2D), and its complications.
Khaled Naja, Asma A. Elashi, Najeha Anwardeen, Aleem Razzaq, Laila Hedaya, Shamma Almuraikhy, Ilhame Diboun, Karsten Suhre, Omar AlBagha, Mohamed A. Elrayess   +9 more
wiley   +1 more source

Specific characteristics of dynamic monitoring of patients diagnosed with classical phenylketonuria during pregnancy

Лечащий Врач
Background. The main therapy for phenylketonuria is a specialised diet with restriction of natural protein, respectively phenylalanine with the prescription of specialised therapeutic foods based on amino acids without phenylalanine.
E. A. Shestopalova
doaj   +1 more source

A CHEMICAL INVESTIGATION OF THE DEFECTS OF MYELINATION IN PHENYLKETONURIA [PDF]

, 1962
L. Crome, V. Tymms, L. I. Woolf
openalex   +1 more source