Results 101 to 110 of about 4,207 (192)

A review of gene therapy in canine and feline models of lysosomal storage disorders [PDF]

, 2015
Bradbury, Allison M, Casal, Margret L, Gurda, Brittney L, Haskins, Mark E, Ponder, Katherine P, Vite, Charles H   +5 more
core   +2 more sources

Properties of recombinant human cytosolic sialidase HsNEU2. The enzyme hydrolyzes monomerically dispersed GM1 ganglioside molecules [PDF]

, 2004
Recombinant human cytosolic sialidase (HsNEU2), expressed in Escherichia coli, was purified to homogeneity, and its substrate specificity was studied. HsNEU2 hydrolyzed 4-methylumbelliferyl alpha-NeuAc, alpha 2-->3 sialyllactose, glycoproteins (fetuin ...
BORSANI G, CROCI G, E. MONTI, FUSI P, PAPINI N, PRETI A, TETTAMANTI G, TORTORA P, TRINGALI C, VENERANDO B   +9 more
core  

GM1 Gangliosidosis [PDF]

, 2020
openaire   +3 more sources

Congenital Heart Malformations Masked by Infantile Gangliosidosis—Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies

Diagnostics
Gangliosidosis (ORPHA: 79255) is an autosomal recessive lysosomal storage disease (LSD) with a variable phenotype and an incidence of 1:200000 live births.
Dana Elena Mîndru, Elena Țarcă, Elena Emanuela Braha, Alexandrina-Ștefania Curpăn, Solange Tamara Roșu, Dana-Teodora Anton-Păduraru, Heidrun Adumitrăchioaiei, Valentin Bernic, Ioana-Alexandra Pădureț, Alina Costina Luca   +9 more
doaj   +1 more source

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations [PDF]

, 2010
Helena Poupětová, Jana Ledvinová, Linda Berná, Lenka Dvořáková, Viktor Kožich, Milan Elleder   +5 more
core   +1 more source

Transient high-level expression of ß-galactosidase after transfection of fibroblasts from GM1 gangliosidosis patients with plasmid DNA

Brazilian Journal of Medical and Biological Research, 2008
GM1 gangliosidosis is an autosomal recessive disorder caused by the deficiency of lysosomal acid hydrolase ß-galactosidase (ß-Gal). It is one of the most frequent lysosomal storage disorders in Brazil, with an estimated frequency of 1:17,000.
R.C. Balestrin, G. Baldo, M.B. Vieira, R. Sano, J.C. Coelho, R. Giugliani, U. Matte   +6 more
doaj  

Proceedings 35th Symposium ESVN‐ECVN

Journal of Veterinary Internal Medicine, Volume 39, Issue 2, March/April 2025.
wiley   +1 more source

Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosis. [PDF]

Am J Med Genet A, 2023
Luckett A, Yousef M, Tifft C, Jenkins K, Smith A, Munoz A, Quimby R, Porter FD, Dang Do AN.   +8 more
europepmc   +1 more source

GM1‐gangliosidosis type I [PDF]

British Journal of Haematology, 2006
Jiri, Pavlu, Marie, Jackson, Nicki, Panoskaltsis   +2 more
openaire   +2 more sources

GM1-gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat. [PDF]

Am J Med Genet A, 2023
Bingaman A, Waggoner C, Andrews SM, Pangonis D, Trad M, Giugliani R, Giorgino R, Jarnes J, Vakili R, Ballard V, Peay HL.   +10 more
europepmc   +1 more source