Murat Tepe, Emre Emekli
Assessing the Responses of Large Language Models (ChatGPT-4, Gemini, and Microsoft Copilot) to Frequently Asked Questions in Breast Imaging: A Study on Readability and Accuracy
Cureus
alphamannosidosis ultrarare lysosomal disease caused variants man2b1 gene chromosome 19p13 variants result faulty absent alphamannosidase lysosomes leads intracellular accumulation mannosecontaining oligosaccharides diagnosis alphamannosidosis often delayed part rarity disease gradual onset heterogeneity presentation also similarity many signs symptoms disease lysosomal diseases treatment alphamannosidosis previously limited hematopoietic stem cell transplantation outcomes variable patients eligible suitable donor recently enzyme replacement therapy recombinant human alphamannosidase velmanase alfa approved treatment nonneurological manifestations adult pediatric patients alphamannosidosis treatment velmanase alfa reduces serum levels oligosaccharides increases levels immunoglobulin g improves patients functional capacity quality life although effective neurologic phenotype cross bloodbrain barrier since effects velmanase alfa marked children adults early diagnosis allow early initiation treatment become important support patient parentcaregiver clinician awareness education imperative number approaches taken meet goal development disease registries validated diagnostic algorithms screening tools improved underpostgraduate clinician education easily accessible reliable information patientsfamilies made available internet formation patient advocacy groups approaches may raise awareness alphamannosidosis reduce diagnostic delay thus improve lives affected