ALLMedicine™ Alpha-mannosidosis Center
Research & Reviews 25 results
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,|
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,|
https://doi.org/10.1007/s12325-020-01574-w 10.1186/1750-1172-3-21 10.1016/j.ymgmr.2019.100480 10.1186/1750-1172-8-88 10.1007/s10545-013-9622-2 10.1016/j.jval.2018.04.1684 10.1002/ajmg.a.61273 10.1016/j.ymgme.2020.04.001 10.1016/j.ymgme.2019.01.024 10.1002/jimd.12138 10.1016/j.ymgme.2018.04.003 10.1007/s10545-018-0185-0 10.1016/j.ymgme.2016.11.048 10.1007/s10545-018-0175-2 10.1016/j.ymgmr.2020.100586 10.3390/ijns4030023 10.1016/j.ymgme.2019.05.016
Advances in Therapy; Verrecchia E, Sicignano LL et. al.
Nov 25th, 2020 - Alpha-mannosidosis is a rare lysosomal storage disorder that generally presents in early childhood. It is a progressive, highly heterogeneous disease that is difficult to recognize, and a diagnosis is usually reached after referrals to multiple sp...
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 ...
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...