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References

Beck M, Olsen KJ, Wraith JE, et al. Natural history of alpha mannosidosis a longitudinal study. Orphanet J Rare Dis. 2013;8:88. doi:10.1186/1750-1172-8-88.
Borgwardt L, Stensland HMFR, Olsen KJ, et al. Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation. Orphanet J Rare Dis. 2015;10:70. doi:10.1186/s13023-015-0286-x.
Borgwardt L, Lund AM, Dali CI. Alpha-mannosidosis – a review of genetic, clinical findings and options for treatment. Pediatr Endocrinol Rev. 2014;12(suppl1):185-191.
Malm D, Nilssen Ø. Alpha-mannosidosis. Orphanet J Rare Dis. 2008;3:21. doi:10.1186/1750-1172-3-21.
Khan JM, Ranganathan S. A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation. BMC Genomics. 2009;10(Suppl 3):S33. doi:10.1186/1471-2164-10-S3-S33.
Malm D, Stensland HMFR, Edvardsen Ø, Nilssen Ø. The natural course and complications of alpha-mannosidosis—a retrospective and descriptive study. J Inherit Metab Dis. 2014;37(1):79-82. doi:10.1007/s10545-013-9622-2.
Malm D, Nilssen Ø. Alpha-Mannosidosis. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews^® [Internet]. University of Washington, Seattle; Updated July 18, 2019. Accessed January 27, 2022. https://www.ncbi.nlm.nih.gov/books/NBK1396.
Matlach J, Zindel T, Amraoui Y, Arash-Kaps L, Hennermann JB, Pitz S. Retinal and optic nerve degeneration in α-mannodisosis. Orphanet J Rare Dis. 2018;13(1):88. doi: 10.1186/s13023-018-0829-z.
Guffon N, Tylki-Syzmanska A, Borgwardt L, et al. Recognition of alpha-mannosidosis in paediatric and adult patients: presentation of a diagnostic algorithm from an international working group. Mol Gen Metab. 2019;126(4):470-474. doi:10.1016/j.ymgme.2019.01.024.
National Institutes of Health. Alpha-mannosidosis: getting a diagnosis. Accessed March 2, 2023. https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis/diagnosis.

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