Results 181 to 190 of about 4,207 (192)

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations

Clinical Genetics, 2010
Deborah Höfer, B J Poorthuis, B Plecko   +2 more
exaly  

GM1-Gangliosidosis

2008
openaire   +1 more source

GM1 gangliosidosis presenting as neonatal ascites

The Journal of Pediatrics, 1982
K I, Abu-Dalu, H, Tamary, N, Livni, A I, Rivkind, S, Yatziv   +4 more
openaire   +2 more sources

A novel human model of the neurodegenerative disease GM1 gangliosidosis using induced pluripotent stem cells demonstrates inflammasome activation

Journal of Pathology, 2015
Mi-Young Son, Binna Seol, Da Yong Lee
exaly  

The potential action of galactose as a “chemical chaperone”: Increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient

European Journal of Paediatric Neurology, 2009
Anna Caciotti, Maria Alice Donati, Alessandra D’Azzò   +2 more
exaly  

Bone marrow transplantation in canine GM1 gangliosidosis

Clinical Genetics, 1990
Rainer Storb, Frederick R Appelbaum, Yasuo Kishimoto   +2 more
exaly  

Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America

Clinical Genetics, 2007
A Chabas, Daniel Grinberg
exaly  

GM1 gangliosidosis

openaire   +1 more source

[A case of GM1 gangliosidosis].

Minerva pediatrica, 1976
M, Bardare, S, di Palma, B, Berra
openaire   +1 more source

[GM1 gangliosidosis].

Ryoikibetsu shokogun shirizu, 2001
openaire   +1 more source