Results 271 to 280 of about 74,859 (354)

Molecular profiles and long-term outcomes of Thai children with hepatic glycogen storage disease in Thailand.

World J Clin Pediatr
Vanduangden J, Ittiwut R, Ittiwut C, Phewplung T, Sanpavat A, Sintusek P, Suphapeetiporn K.   +6 more
europepmc   +1 more source

Recurrent Myalgia, Dark Urine, and Exercise Intolerance: Glycogen Storage Disease Type X Diagnosed Through Gene Sequencing Panel. [PDF]

Cureus
Furuta Y, Phillips JA.
europepmc   +1 more source

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study [PDF]

, 2016
et al,, Pestronk, Alan
core   +1 more source

The link between sarcopenic obesity and Alzheimer's disease: a brain‐derived neurotrophic factor point of view

The Journal of Physiology, EarlyView.
Abstract figure legend A, Sarcopenic obesity is defined as the age‐related loss of skeletal muscle mass and function that often leads to the progression of comorbidities, such as Alzheimer's disease (AD). Though the exact link between the two diseases is unknown, alterations in brain‐derived neurotrophic factor (BDNF) may be a contributor.
Emily N. Copeland, Paul J. LeBlanc, Paula Duarte‐Guterman, Val A. Fajardo, Rebecca E. K. MacPherson   +4 more
wiley   +1 more source

Neutrophil functions in patients with neutropenia due to glycogen storage disease type 1b treated with empagliflozin. [PDF]

Blood Adv
Kaczor M, Malicki S, Folkert J, Dobosz E, Bryzek D, Chruscicka-Smaga B, Greczan M, Wesół-Kucharska D, Piątosa B, Samborowska E, Madzio J, Książyk J, Ehmke Vel Emczyńska E, Hajdacka M, Potempa J, Młynarski W, Rokicki D, Veillard F.   +17 more
europepmc   +1 more source

Date (Phoenix dactylifera L.) Fruit as a Functional Food for Enhancing Athletic Performance and Recovery: A New Perspective

eFood, Volume 6, Issue 3, June 2025.
This review highlights the underexplored yet significant potential of date fruit as a functional food for athletes. It discusses its nutrient composition, bioactive compounds, and evidence‐based benefits in improving athletic performance and recovery. ABSTRACT Nutrition plays a crucial role in optimal athletic performance, taking into account hydration
Sammra Maqsood, Muhammad Tayyab Arshad, Ali Ikram, Muhammed Adem Abdullahi   +3 more
wiley   +1 more source

SLC37A4, gene responsible for glycogen storage disease type 1b, regulates gingival epithelial barrier function via JAM1 expression. [PDF]

Sci Rep
Tanigaki K, Matsumura R, Sasaki N, Kato Y, Tamamori T, Yamaga S, Nakamura E, Sakanaka A, Kuboniwa M, Matsusaki M, Amano A, Takeuchi H.   +11 more
europepmc   +1 more source

Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence‐based practice resource of the National Society of Genetic Counselors

Journal of Genetic Counseling, Volume 34, Issue 3, June 2025.
Abstract Hypertrophic cardiomyopathy (HCM) is a common hereditary condition affecting approximately 1 in 500 adults. It is characterized by marked clinical heterogeneity with individuals experiencing minimal to no symptoms, while others may have more severe outcomes including heart failure and sudden cardiac death.
Erin M. Miller, Emily Brown, Susan Christian, Melissa A. Kelly, Linda M. Knight, Sara Saberi, Christina Rigelsky, Jodie Ingles   +7 more
wiley   +1 more source

Phase Separation: A New Dimension to Understanding Tumor Biology and Therapy

MedComm – Oncology, Volume 4, Issue 2, June 2025.
Liquid–liquid phase separation (LLPS) facilitates the assembly of biomolecular condensates by leveraging weak multivalent interactions. The low‐complexity domains, foldable domains of proteins, and nucleic acids provide multivalent interaction sites among different molecules and contribute to the formation of condensates.
Xingwen Wang, Minqiao Lu, Yi Zhang, Jiangwen Ma, Ying Hu   +4 more
wiley   +1 more source

Isolated short stature as the only presenting symptom of glycogen storage disease type 0a in a Chinese child: A case report. [PDF]

Medicine (Baltimore)
Fu H, Yang A, Du C, Liang Y.
europepmc   +1 more source