Alfa-mannosidosis: Frequent Symptoms in Rare Patient

Alfa-mannosidosis: Frequent Symptoms in Rare Patient

Background. Alfa-mannosidosis is ultra-rare autosomal recessive lysosomal storage disease caused by the mutation in the MAN2B1 gene. Pathogenic nucleotide variants and structural changes in this gene lead to acid alpha-mannosidase deficiency, this enzyme is involved in oligosaccharides degradation....

Full description

Saved in:
Bibliographic Details
Main Authors: Nato D. Vashakmadze, Natalia V. Zhurkova, Ludmila K. Mikhaylova, Marina A. Babaykina, Maria S. Karaseva, Kristina V. Pashkova, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova
Format: Article
Language:English
Published: "Paediatrician" Publishers LLC 2023-01-01
Series:Вопросы современной педиатрии
Subjects:
alfa-mannosidosis
clinical case
hearing loss
spinal deformity
ataxia
congenital cataract
developmental speech delay
Online Access:https://vsp.spr-journal.ru/jour/article/view/3088
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://vsp.spr-journal.ru/jour/article/view/3088

Similar Items