Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study
CONCLUSION: The present study identified two novel MAN2B1 variants. An evaluation of the long-term outcome of alpha-mannosidosis, in which the early initiation of enzyme replacement therapy (ERT) may lead to a better clinical outcome, can permit a better analysis of the effect of ERT on the natural progression of the disease.PMID:38382588 | DOI:10.1016/j.ejmg.2024.104927
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Engin K öse Çiğdem Seher Kasapkara Asl ı İnci Y ılmaz Yıldız İlknur Sürücü Kara Ay ça Burcu Kahraman Leyla T ümer Ali Dursun Fatma Tuba Emino ğlu Source Type: research
More News: Audiology | Brain | Disability | Genetics | Hepatomegaly | Laboratory Medicine | Neurology | Pediatrics | Psychiatry | Respiratory Medicine | Study