Results 161 to 170 of about 7,598 (255)

Inborn Errors of Immunity in Pediatric Intensive Care: Prevalence, Characteristics, and Prognosis [PDF]

Fatih Çelmeli, Ayşe Öz, Hasan Serdar Kıhtır, Ebru Atike Ongun, Aysel Tekmenuray‐Unal, Serdar Ceylaner, Ayça Aykut, Sultan Aydın Köker, Safa Barış   +8 more
openalex   +1 more source

Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Our research aimed to model primary hyperoxaluria type 1 in vitro using a stem cell model and assess the potential of adenine base editors in correcting the most common pathogenic AGXT genetic variant, c.508G>A (Gly170Arg), which leads to oxalate accumulation due to alanine‐glyoxylate aminotransferase mislocalization.
Timo Keskinen, Sami Jalil, Irem Gümüşoğlu, Juhana Juutila, Nadim Kestilä, Emilia Kuuluvainen, Ville Hietakangas, Diego Balboa, Kirmo Wartiovaara, Mervi E. Hyvönen   +9 more
wiley   +1 more source

Sociodemographic drivers of care disparity among patients with inborn errors of immunity. [PDF]

Curr Opin Pediatr
Neary CM, Ong MS, Farmer JR.
europepmc   +1 more source

Pregnancy complications in women with an inborn error of immunity: a systematic review

Bengisu Yakut, Anna C.R. Knaapen, Xin Cui, P. Martin van Hagen, Virgil A. S. H. Dalm, A. Mulders, Saskia M. Rombach   +6 more
openalex   +1 more source

From Control to Optimisation: Evolving Strategies in the Nutritional Management of Inborn Errors of Protein Metabolism

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Undoubtedly the nutritional management of inborn errors of protein metabolism (IEPM) has improved since the early 1950s, but it is still associated with significant patient burden. The pace of development has not kept up with the increasing demands of the ‘real world’ or development in other areas of medicine. It is essential that research and
Júlio César Rocha, Anne Daly, Anita MacDonald   +2 more
wiley   +1 more source

Malignancy in Adults with Inborn Errors of Immunity: A Retrospective Single-Center Study. [PDF]

J Clin Immunol
Gumusburun R, Yıldırım O, Karakoc M, Okan K, Inan S, Dalgıc CT, Akten HS, Bogatekin G, Bulut G, Demir M, Aytac H, Camyar A, Ozısık M, Demir D, Soyer N, Soylu M, Uysal FE, Aykut A, Durmaz A, Ozgul S, Sin AZ, Ardeniz O.   +21 more
europepmc   +1 more source

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza, Roberto Giugliani, Debra S. Regier, Jeanine Jarnes   +3 more
wiley   +1 more source

Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort. [PDF]

Front Immunol
Godinez-Zamora GF, Baeza-Capetillo P, Saucedo-Ramírez OJ, Del-Río-Navarro BE, Espinosa-Padilla SE, Morán-Barroso VF, Aguirre-Hernandez J.   +6 more
europepmc   +1 more source

Investigating Chromosomal Radiosensitivity in Inborn Errors of Immunity: Insights from DNA Repair Disorders and Beyond [PDF]

Elien Beyls, Evi Duthoo, Lynn Backers, Karlien Claes, Tessa Kerre, Bart N. Lambrecht, Liesbeth Hoste, Bram Meertens, T. Van Genechten, Alina Ferster, Koen Vanden Driessche, C. De Vriendt, Laurence Dedeken, Ine Moors, Catharina Dhooge, Laure Kornreich, Cathérine Heijmans, M. Le Roux, Colard Manon, An Van Damme, Kristof Van Schil, Bram De Wilde, Marieke De Bruyne, Lore Pottie, Victoria Bordon, Carolien Bonroy, Simon J. Tavernier, Kathleen Claes, Anne Vral, Ans Baeyens, Filomeen Haerynck   +30 more
openalex   +1 more source

GMPPB‐CDG Results in Lysosomal Dysfunction and Acid Alpha‐Glucosidase Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GDP‐mannose pyrophosphorylase B (GMPPB) deficiency is a congenital disorder of glycosylation due to pathogenic variants of the GMPPB gene. GMPPB catalyzes GDP‐mannose synthesis, an early step in multiple glycosylation pathways, including N‐glycosylation, O‐mannosylation, C‐mannosylation, and glycosylphosphatidylinositol‐anchor formation.
Carla Damiano, Antonietta Tarallo, Vincenza Gragnaniello, Sandra Strollo, Simona Fecarotta, M. Rosaria Tuzzi, Elena Polishchuk, Sandro Montefusco, Anna Valanzano, Antonia Assunto, Nadia Minopoli, Roberto Della Casa, Roman Polishchuk, Stijn L. M. in 't Groen, Diego Luis Medina, Enrico Bertini, Rosalba Carrozzo, Julia Emmerich, Benedikt Schoser, W. W. M. Pim Pijnappel, Giancarlo Parenti   +20 more
wiley   +1 more source