Results 91 to 100 of about 166,041,693 (206)

The Role and Mechanism of Incretins in Gynaecologic Diseases

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.
This review outlines the mechanisms of incretins in polycystic ovary syndrome, endometriosis and gynaecological cancers, highlighting the translational potential of incretin‐based therapies for metabolic‐associated gynaecological disorders. ABSTRACT Background Obesity is a major global public health concern closely linked to the development and ...
Jiayu Yan, Minyue Cao, Yan Ding, Yiqin Zhang, Yihan Sun, Genyi Jiang, Yanli Zhang, Luyao Kang, Xue Zhou, Jing Luo, Bilan Li   +10 more
wiley   +1 more source

Hyperkinetic movement disorders in congenital disorders of glycosylation

European Journal of Neurology, 2019
Background and purposeCongenital disorders of glycosylation (CDG) represent an increasing number of rare inherited metabolic diseases associated with abnormal glycan metabolism and disease onset in infancy or early childhood. Most CDG are multisystemic diseases mainly affecting the central nervous system. The aim of the current study was to investigate
Mostile G., Barone R., Nicoletti A., Rizzo R., Martinelli D., Sturiale L., Fiumara A., Jankovic J., Zappia M.   +8 more
openaire   +5 more sources

Pericerebral spaces as diagnostic signposts in fetal central nervous system pathologies

Ultrasound in Obstetrics &Gynecology, EarlyView.
L. Guibaud, S. Cabet
wiley   +1 more source

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

Epilepsia, Volume 67, Issue 9, Page 4907-4921, September 2026.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann   +13 more
wiley   +1 more source

High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect

eLife, 2018
Proper brain development relies highly on protein N-glycosylation to sustain neuronal migration, axon guidance and synaptic physiology. Impairing the N-glycosylation pathway at early steps produces broad neurological symptoms identified in congenital ...
Daniel Medina-Cano, Ekin Ucuncu, Lam Son Nguyen, Michael Nicouleau, Joanna Lipecka, Jean-Charles Bizot, Christian Thiel, François Foulquier, Nathalie Lefort, Catherine Faivre-Sarrailh, Laurence Colleaux, Ida Chiara Guerrera, Vincent Cantagrel   +12 more
doaj   +1 more source

Proteo‐Metabolomic Profiling of PMM2‐CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo‐Inositol, and the Hexosamine Pathway

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Phosphomannomutase deficiency (PMM2‐CDG), the most common congenital disorder of glycosylation (CDG), is characterized by multisystem involvement and a lack of disease‐modifying therapies. While previous transcriptomic studies have uncovered disrupted cellular pathways, the functional consequences of these alterations remain poorly understood.
Diana Gallego, Giuseppina Andreotti, Maria Monticelli, Debora Paris, Arturo Martín‐Martínez, Alejandra Gámez, Mercedes Serrano, José Córdoba‐Caballero, Pedro Seoane, Juan A. G. Ranea, Belén Pérez   +10 more
wiley   +1 more source

ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant

Molecular Genetics & Genomic Medicine, 2020
Background Congenital disorder of glycosylation (CDG) type I is a group of rare disorders caused by recessive mutations in up to 25 genes that impair the N‐glycan precursor formation and its transfer to proteins resulting in hypoglycosylation of multiple
María Eugenia de laMorena‐Barrio, María Sabater, Belén de laMorena‐Barrio, Renee L. Ruhaak, Antonia Miñano, José Padilla, Mara Toderici, Vanessa Roldán, Juan R. Gimeno, Vicente Vicente, Javier Corral   +10 more
doaj   +1 more source

Results From a Phase 2, Open‐Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2‐CDG

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Phosphomannomutase 2 congenital disorder of glycosylation (PMM2‐CDG) is a rare, autosomal recessive disease caused by PMM2 deficiency, which impairs conversion of mannose‐6‐phosphate into mannose‐1‐phosphate (M1P) and disrupts N‐linked glycosylation.
Mercedes Serrano, Florencia Epifani, Rose Marino, Peter McWilliams   +3 more
wiley   +1 more source

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

, 2019
© 2019 SSIEM Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe ...
Barone, Rita, de Lonlay, Pascale, Coman, David, Cassiman, David, Jaeken, Jaak, Altassan, Ruqaiah, Corral, Javier, Brasil, Sandra, Cechova, Anna, Correia, Joana, Peanne, Romain, de la Morena-Barrio, Maria Eugenia, Bidet, Muad, Borgel, Delphine, et al.   +14 more
core   +1 more source

Pediatric Anesthetic Management of a Patient With an ALG‐13 Gene Mutation, a Rare Congenital Disorder of Glycosylation

Clinical Case Reports
Congenital disorders of glycosylation are rare and present a challenge in management due to interactions with intraoperative medications. We present safe and successful anesthetic management of a pediatric patient with an ALG‐13 gene mutation.
Esha Thakkar, John A. Iasiello, Sunny R. Cai, Adrienne Hutton   +3 more
doaj   +1 more source