Results 71 to 80 of about 2,424 (142)

GM1‐gangliosidosis type I [PDF]

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

GM1 gangliosidosis [PDF]

, 2020
openaire   +3 more sources

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

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

Proceedings 35th Symposium ESVN‐ECVN

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

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

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  

Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients. [PDF]

Mol Genet Metab, 2023
Nicoli ER, Huebecker M, Han ST, Garcia K, Munasinghe J, Lizak M, Latour Y, Yoon R, Glase B, Tyrlik M, Peiravi M, Springer D, Baker EH, Priestman D, Sidhu R, Kell P, Jiang X, Kolstad J, Kuhn AL, Shazeeb MS, Acosta MT, Proia RL, Platt FM, Tifft CJ.   +23 more
europepmc   +1 more source

Abnormal DaTscan in GM1-Gangliosidosis Type III Manifesting with Dystonia-Parkinsonism. [PDF]

Mov Disord Clin Pract, 2022
Koya Kutty S, Magrinelli F, Milner AV, Bhatia KP.   +3 more
europepmc   +1 more source

Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis. [PDF]

Mol Genet Metab, 2023
Herbst ZM, Hong X, Urdaneta L, Klein T, Waggoner C, Liao HC, Kubaski F, Giugliani R, Fuller M, Gelb MH.   +9 more
europepmc   +1 more source