Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 10/31/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 165 publications
Screening of high risk children for lysosomal storage diseases and analysis of disease spectrum
Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: May 20, 2025
Beta-mannosidosis in a domestic cat associated with a missense variant in MANBA.
Journal: Gene
Published: August 30, 2023
Beta-Mannosidosis Is a Cause of Hypomyelination.
Journal: Pediatric neurology
Published: August 07, 2022
Impact of Multiple Sclerosis Risk Polymorphism rs7665090 on MANBA Activity, Lysosomal Endocytosis, and Lymphocyte Activation.
Journal: International journal of molecular sciences
Published: June 15, 2022
Oral manifestation and dental treatment of pediatric patient with beta-mannosidosis: A case report.
Journal: SAGE open medical case reports
Published: July 29, 2021
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant.
Journal: Orphanet journal of rare diseases
Published: June 15, 2020
Hereditary β-mannosidosis in a dog: Clinicopathological and molecular genetic characterization.
Journal: Molecular genetics and metabolism
Published: April 04, 2019
Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis.
Journal: Molecular genetics & genomic medicine
Published: March 13, 2019
β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA.
Journal: Cold Spring Harbor molecular case studies
Published: January 11, 2019
The structure of mammalian β-mannosidase provides insight into β-mannosidosis and nystagmus.
Journal: The FEBS journal
Published: May 10, 2018
Last Updated: 10/31/2025