Results 181 to 190 of about 25,851 (276)

Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of <i>GBE1</i>-Related Disease. [PDF]

JIMD Rep
Koch RL, Akman HO, Chown E, Goldman D, Levenson J, Lu Q, Michalovicz Gill LT, Morgan M, Orthmann-Murphy JL, Pires NT, Reef R, Saxe H, Singer-Berk M, Baxter S.   +13 more
europepmc   +1 more source

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1591-1600, July 2026.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa, Alexandre Rodrigues Ferreira, Adriana Teixeira Rodrigues, Rodrigo Rezende Arantes, Thais Costa Nascentes Queiroz, Elisa de Carvalho, Gilda Porta, Irene Kazue Miura, Maria Tereza Galvão Guiotti, Rafaella Karen Sousa Monterlei, Adriana Maria Alves de Tommaso, Gabriel Hessel, Maria Ângela Bellomo‐Brandão, Roberta Vacari de Alcantara, Maria Julia Rodrigues Teixeira de Araujo, Daniela Góis Meneses, Regina Sawamura, Cibele Dantas Ferreira Marques, Lucas Rocha Alvarenga, Marise Helena Cardoso Tofoli, Ana Cristina Vieira de Melo, Jussara Melo de Cerqueira Maia, Leticia Helena Caldas Lopes, Eleonora Druve Tavares Fagundes   +23 more
wiley   +1 more source

Glycogen storage disease type Ia with a 17-year history of renal involvement: a case report. [PDF]

J Med Case Rep
Chen M, Xu L, Shi X, Wen Y, Ma J, Hu R, Chen G.   +6 more
europepmc   +1 more source

Metabolic Fingerprints of High‐Risk Individuals for Pancreatic Cancer: A Multibiospecimen Investigation

Analysis &Sensing, Volume 6, Issue 4, July 2026.
This study presents a multimatrix untargeted metabolomics analysis of fecal, plasma, and urine samples from individuals at high risk for pancreatic cancer development. Integrated multivariate and cofactor‐adjusted models were applied to characterize cross‐matrix metabolomic associations, incorporating pancreatic magnetic resonance imaging data, sex ...
Vladyslav Dovhalyuk, Quang‐Dong Bui, Vincent Ripoll, Wiktor Rutkowski, Miroslav Vujasinovic, J.‐Matthias Löhr, Daniel Globisch   +6 more
wiley   +1 more source

Astrocyte Mechanobiology: Linking Biomechanical Forces to Biochemical Signaling in the Central Nervous System

Glia, Volume 74, Issue 7, July 2026.
Astrocytes are key sensors and transducers of biomechanical stimuli within the central nervous system. Astrocyte development is highly dependent on mechanical stimuli such as surrounding tissue stiffness and biomechanical strain. Mechanosensory pathways including integrins, connexins and pannexins, and mechanosensitive channels regulate astrocyte ...
Ana N. Strat, Alima Ahmed, Mariano Viapiano, Preethi S. Ganapathy   +3 more
wiley   +1 more source

Clinical, pathological and genetic features as well as follow-up of 68 patients with late-onset Pompe disease: a single-center retrospective study. [PDF]

Front Nutr
Li D, Shi Y, Sun H, Zhang N, Su H, Li W, Zhao D, Wen B, Zhao Y.   +8 more
europepmc   +1 more source

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

Concurrent Sporadic Late-Onset Nemaline Myopathy and an Excessive Glycogen Accumulation Associated With Monoclonal Gammopathy. [PDF]

Eur J Neurol
Jones FJS, Cheema I, Laughlin RS, Muchtar E, Liewluck T.   +4 more
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

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