Engin Köse, Çiğdem Seher Kasapkara, Aslı İnci, Yılmaz Yıldız, İlknur Sürücü Kara, Ayça Burcu Kahraman, Leyla Tümer, Ali Dursun, Fatma Tuba Eminoğlu
BACKGROUND: Alpha mannosidosis is an autosomal recessive lysosomal storage disorder caused by biallelic pathogenic variants in the MAN2B1 gene. It manifests with clinical features, including intellectual disability, hearing impairment, coarse facial appearance, skeletal anomalies, immunodeficiency, central nervous system involvement, psychiatric comorbidities, corneal opacity, and hepatosplenomegaly. This multicenter study assesses the long-term outcomes of individuals diagnosed with alpha-mannosidosis, examining demographic, clinical, laboratory, and molecular characteristics...
February 19, 2024: European Journal of Medical Genetics