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Cellular and Molecular Life Sciences : CMLS|June 27, 2025
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementationAndrea Jáñez Pedrayes, Sam De Craemer, Jakub Idkowiak, et al.Clinical Genetics|June 24, 2021
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancyChristina K Rapp, Ine Van Dijck, Lucia Laugwitz, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 19, 2022
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disabilitySilvia Radenkovic, Diego Martinelli, Yuebo Zhang, et al.Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|March 22, 2017
Nutritional status, nutrient intake and use of enzyme supplements in paediatric patients with Cystic Fibrosis; a European multicentre study with reference to current guidelinesJoaquim Calvo-Lerma, Jessie M Hulst, Inês Asseiceira, et al.Molecular Genetics and Metabolism|June 18, 2021
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?Anna Čechová, Tomáš Honzík, Andrew C Edmondson, et al.Journal of Pediatric Gastroenterology and Nutrition|July 29, 2017
Cystic Fibrosis-related Liver Disease: Research Challenges and Future PerspectivesDominique Debray, Michael R Narkewicz, Frank A J A Bodewes, et al.HGG Advances|January 20, 2022
Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfectaThao T Tran, Rachel B Keller, Brecht Guillemyn, et al.Journal of Inherited Metabolic Disease|April 9, 2020
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylationAnna Čechová, Ruqaiah Altassan, Delphine Borgel, et al.The European Respiratory Journal|November 13, 2020
Transcriptomic analysis of CFTR-impaired endothelial cells reveals a pro-inflammatory phenotypeMathias Declercq, Pauline de Zeeuw, Nadine V Conchinha, et al.NPJ Systems Biology and Applications|April 25, 2026
The complexome contextualizes proteomics data to fingerprint biological states and highlight perturbed functional modules in diseaseMainak Guharoy, Isabelle Adant, Matthew Bird, et al.Pageof 8