Associated Papers
Alpha-mannosidosis due to a novel MAN2B1 truncating mutation in a Chinese patient: a new report and long-term follow-up.
Yao F et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2026
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis.
Šáhó R et al.
Journal of Inherited Metabolic Disease, 2025
A new view of missense mutations in α-mannosidosis using molecular dynamics conformational ensembles.
Mandl Š et al.
Protein Science : a Publication of the Protein Society, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
Delayed diagnosis and clinical course of alpha-mannosidosis: A retrospective study of 25 patients with varying severity.
Nurse JH et al.
Genetics in Medicine Open, 2025
MAN2B1 in immune system-related diseases, neurodegenerative disorders and cancers: functions beyond α-mannosidosis.
Han Y et al.
Expert Reviews in Molecular Medicine, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
A PIKfyve modulator combined with an integrated stress response inhibitor to treat lysosomal storage diseases.
Hou WC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study.
Köse E et al.
European Journal of Medical Genetics, 2024
Prenatal Diagnosis of c.437-1G>A Mutation in the MAN2B1 Gene in a Family With Alpha-Mannosidosis: Unraveling Clinical Presentation and Treatment Outcomes in a Novel Prenatal Case.
AlAnzi T et al.
Cureus, 2024
Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis.
Bertolini A et al.
Clinical Dysmorphology, 2024
Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.
Hashmi JA et al.
Frontiers in Genetics, 2024
Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter study.
Guffon N et al.
Journal of Inherited Metabolic Disease, 2023
Carrier frequency and incidence of alpha-mannosidosis: population database-based study-focus on the East Asian and Korean population.
Park JE et al.
Frontiers in Genetics, 2023
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
Long-term outcome of patients with alpha-mannosidosis - A single center study.
Lipiński P et al.
Molecular Genetics and Metabolism Reports, 2022
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.
Klau J et al.
European Journal of Human Genetics : Ejhg, 2022
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Hyder Z et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.
La Cognata V et al.
Genes, 2021
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.
Mkaouar R et al.
Plos One, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.
Lehalle D et al.
American Journal of Medical Genetics. Part A, 2019
Clinical implementation of gene panel testing for lysosomal storage diseases.
Gheldof A et al.
Molecular Genetics & Genomic Medicine, 2019
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
Lysosomal alpha-mannosidase and alpha-mannosidosis.
Paciotti S et al.
Frontiers in Bioscience (landmark Edition), 2017
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.
Borgwardt L et al.
Orphanet Journal of Rare Diseases, 2015
amamutdb.no: A relational database for MAN2B1 allelic variants that compiles genotypes, clinical phenotypes, and biochemical and structural data of mutant MAN2B1 in α-mannosidosis.
Riise Stensland HM et al.
Human Mutation, 2015
Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis.
Danielsen ER et al.
Jimd Reports, 2013
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.
Riise Stensland HM et al.
Human Mutation, 2012
Molecular and cellular characterization of novel {alpha}-mannosidosis mutations.
Kuokkanen E et al.
Human Molecular Genetics, 2011
Clinical utility gene card for: α-mannosidosis.
Nilssen Ø et al.
European Journal of Human Genetics : Ejhg, 2011
A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.
Khan JM et al.
Bmc Genomics, 2009
Abstracts of the International Workshop on Lysosomal Storage Diseases. November 7-8, 2008. Lisbon, Portugal.
Unknown Author
Expert Opinion on Therapeutic Targets, 2009
Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis.
Pittis MG et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2007
Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants.
Hansen G et al.
The Biochemical Journal, 2004
Spectrum of mutations in alpha-mannosidosis.
Berg T et al.
American Journal of Human Genetics, 1999
Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.
Gotoda Y et al.
American Journal of Human Genetics, 1998