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About 63 results

ALLMedicine™ Alpha-mannosidosis Center

Research & Reviews  25 results

Alpha-mannosidosis: A novel cause of bilateral thalami and dentate nuclei hyperintensity.
https://doi.org/10.1017/cjn.2021.208
The Canadian Journal of Neurological Sciences. Le Journal... Malaquias MJ, Pinto E et. al.

Sep 7th, 2021 - Alpha-mannosidosis: A novel cause of bilateral thalami and dentate nuclei hyperintensity.|2021|Malaquias MJ,Pinto E,Oliveira J,Parente Freixo J,Caseiro C,|

Alpha-mannosidosis in a family: natural history with an uncommon retinal dystrophy.
https://doi.org/10.1097/MCD.0000000000000361
Clinical Dysmorphology; Sandal S, Razdan TB et. al.

Dec 9th, 2020 - Alpha-mannosidosis in a family: natural history with an uncommon retinal dystrophy.|2020|Sandal S,Razdan TB,Verma J,Dubey S,Ghosh A,|

The SPARKLE registry: protocol for an international prospective cohort study in patient...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7525940
Orphanet Journal of Rare Diseases; Hennermann JB, Guffon N et. al.

Oct 1st, 2020 - Alpha-mannosidosis is a lysosomal storage disorder caused by reduced enzymatic activity of alpha-mannosidase. SPARKLE is an alpha-mannosidosis registry intended to obtain long-term safety and effectiveness data on the use of velmanase alfa during ...

Global CNS correction in a large brain model of human alpha-mannosidosis by intravascul...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7363495
Brain : a Journal of Neurology; Yoon SY, Hunter JE et. al.

Jul 17th, 2020 - Intravascular injection of certain adeno-associated virus vector serotypes can cross the blood-brain barrier to deliver a gene into the CNS. However, gene distribution has been much more limited within the brains of large animals compared to roden...

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