Results 191 to 200 of about 20,402 (244)

Quantitative Muscle MRI of the Lower Extremities Reveals Different Patterns of Involvement in Classic Infantile and Young Late‐Onset Pompe Patients

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT With increased survival due to enzyme replacement therapy, children with classic infantile Pompe disease tend to develop a clinical phenotype with pronounced distal muscle weakness, while late‐onset patients typically exhibit proximal muscle weakness.
Jan J. A. van den Dorpel, Mechteld E. Guldemond, Kevin R. Keene, Pieter A. van Doorn, Ans T. van der Ploeg, Johanna M. P. van den Hout, Hermien E. Kan, Nadine A. M. E. van der Beek   +7 more
wiley   +1 more source

Infant masking of recurrent hypoglycaemia and metabolic disease. [PDF]

BMJ Case Rep
Zhong B, Armarego M, Dignam N, Gard J.
europepmc   +1 more source

Mass spectrometry imaging of N‐linked glycans: Fundamentals and recent advances

Mass Spectrometry Reviews, Volume 45, Issue 4, Page 599-623, July/August 2026.
Abstract With implications in several medical conditions, N‐linked glycosylation is one of the most important posttranslation modifications present in all living organisms. Due to their nontemplate synthesis, glycan structures are extraordinarily complex and require multiple analytical techniques for complete structural elucidation.
Tana V. Palomino, David C. Muddiman
wiley   +1 more source

Cell Death in Skeletal Muscle Diseases: Diverse Roles and Pathological Processes. [PDF]

Cells
Yang YL, Guo L.
europepmc   +1 more source

Advancements in Mass Spectrometry‐Based Glycomics in Food and Nutritional Science

Mass Spectrometry Reviews, Volume 45, Issue 4, Page 829-850, July/August 2026.
ABSTRACT This review highlights advancements in mass spectrometry (MS)‐based glycomics in food and nutritional science. Carbohydrates, which are vital for human health, exhibit complex structures, making their analysis challenging. MS has become an indispensable tool for elucidating the structures of carbohydrates, including glycans, through soft ...
JaeHui Song, HyunJi Lee, Youngshik Choe, Hyeyoung Lee   +3 more
wiley   +1 more source

The kidney in genetic metabolic disorders. [PDF]

Med Genet
Schultheiss UT, Schumann A.
europepmc   +1 more source

Ischemia–Reperfusion Injury: Molecular Mechanisms and Therapeutic Interventions

MedComm, Volume 7, Issue 7, July 2026.
Multiorgan ischemia–reperfusion injury begins with ischemia‐induced ATP depletion and ionic imbalance, followed by reperfusion‐triggered mitochondrial ROS/RNS bursts, regulated cell death, and DAMP release. Sterile inflammation converges on endothelial–immune–coagulation crosstalk, where NETs drive immunothrombosis, no‐reflow, and remote organ injury ...
Peng An, Yi An, Mengwei Chen, Longlong Wu, Rong Wang   +4 more
wiley   +1 more source

Complement Activation in Maternal and Placental Pathology of Preeclampsia. [PDF]

Hypertension
Banadakoppa MT, Chauhan MS, Tacam MJ, Nevins AW, Ruano AH, Ruano SH, Fuson JA, Yallampalli C.   +7 more
europepmc   +1 more source

Multi‐Targeting Ligands as Prospective Therapeutics for Alzheimer's Disease, a Prevalent Neurodegenerative Disorder: Mechanistic Insights, Emerging Targets and Drug Discovery Campaigns

Medicinal Research Reviews, Volume 46, Issue 4, Page 1173-1229, July 2026.
ABSTRACT Alzheimer's disease (AD) is a debilitating neurodegenerative condition characterized by progressive cognitive impairment, memory deterioration, and neuronal dysfunction. Its complex pathophysiology involves multiple interlinked processes, including amyloid‐β (Aβ) aggregation, tau hyperphosphorylation, oxidative stress, neuroinflammation ...
Amandeep Thakur, Mandeep Rana, Sakshi Vanjani, Kei‐Chi Liou, Rajeev Taliyan, Kunal Nepali, Chih‐Hao Yang   +6 more
wiley   +1 more source

Prospective gait analysis in patients from the French registry of glycogen storage disease type III: implications for clinical trials. [PDF]

J Neurol
Hogrel JY, Fer F, Ledoux I, Petit F, Darce-Bello M, Labrune P, Wahbi K, Habes D, Gardin A, Masingue M, Laforêt P, Decostre V.   +11 more
europepmc   +1 more source