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Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group.
Guffon N, Tylki-Szymanska A, Borgwardt L, Lund AM, Gil-Campos M, Parini R, Hennermann JB. Guffon N, et al. Mol Genet Metab. 2019 Apr;126(4):470-474. doi: 10.1016/j.ymgme.2019.01.024. Epub 2019 Jan 31. Mol Genet Metab. 2019. PMID: 30792122 Free article.
Alpha-mannosidosis is an ultra-rare progressive lysosomal storage disorder caused by deficiency of alpha-mannosidase. Timely diagnosis of the disease has the potential to influence patient outcomes as preventive therapies can be initiated at an early s …
Alpha-mannosidosis is an ultra-rare progressive lysosomal storage disorder caused by deficiency of alpha-mannosidase …
Can velmanase alfa be the next widespread potential therapy for alpha-mannosidosis?
Abdul Ghani S, Burney S, Ul Hussain H, Abdul Wahid M, Mumtaz H. Abdul Ghani S, et al. Int J Surg. 2023 Sep 1;109(9):2882-2885. doi: 10.1097/JS9.0000000000000528. Int J Surg. 2023. PMID: 37352513 Free PMC article.
The clinical subtype of AM shows considerable variability in an individual, and at present, at least three clinical subtypes are suggested. Diagnosis is made by identification of deficiency of alpha-mannosidase activity in nucleated cells, like fibrobl …
The clinical subtype of AM shows considerable variability in an individual, and at present, at least three clinical subtypes are suggested. …
Destructive joint disease in alpha-mannosidosis. A case report and review of the literature.
Gerards AH, Winia WP, Westerga J, Dijkmans BA, van Soesbergen RM. Gerards AH, et al. Clin Rheumatol. 2004 Feb;23(1):40-2. doi: 10.1007/s10067-003-0770-x. Epub 2003 Nov 13. Clin Rheumatol. 2004. PMID: 14749981
Storage of oligosaccharides due to a deficiency of alpha-mannosidase can lead to joint destruction in children and young adults. ...
Storage of oligosaccharides due to a deficiency of alpha-mannosidase can lead to joint destruction in children a …