Results 251 to 260 of about 130,693 (343)

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 complicated by gestational hypertriglyceridemic pancreatitis: A rare case report. [PDF]

BMC Pregnancy Childbirth
Zhang Y, Cui L, Gao J, Song Y, Fan Y, Yang M.   +5 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

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

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

Efficacious genome editing in infant mice with glycogen storage disease type Ia. [PDF]

JCI Insight
Arnson B, Ilich E, von Beck T, Li S, Brooks ED, Gheorghiu D, He G, Weinrub M, Chan SY, Kang HR, Courtney D, Everitt JI, Cullen BR, Koeberl DD.   +13 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

Untargeted Proteomics Profiling of Liver and Plasma in Fed and Fasted Liver-Specific Glycogen Storage Disease Type Ia (GSD Ia) Mice: Toward Potential Protein Biomarkers. [PDF]

J Inherit Metab Dis
Xiao R, de Vries HI, Gross-Valle C, Bleeker A, Derks TGJ, Bakker BM, Oosterveer MH, Wolters JC.   +7 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