Results 181 to 190 of about 2,137 (206)

FIVE GANGLIOSIDOSES

The Lancet, 1969
openaire   +2 more sources

Gangliosidoses

1967
G. Schettler, W. Kahlke
openaire   +1 more source

Motor function limitations and impacts among patients with GM1 AND GM2 gangliosidoses in the United States: A qualitative study

Molecular Genetics and Metabolism
Daisy Ng-Mak, Maria Belen Rodriguez, Karli Heuer, C. Waggoner, D. Jussila, R. Pulikottil-Jacob, Nancy Gabriela Perez, R. Krupnick   +7 more
semanticscholar   +1 more source

A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Baseline clinical data

Molecular Genetics and Metabolism
Roberto Giugliani, P. Harmatz, Bénédicte Héron, Marc Patterson, Susanne A Schneider, Aurélie Bourchany, Andreas Hahn, Daniel A.D. Valle, R. Barone, Brigitte Chabrol, Anna Ardissone, S. Batzios, Maurizio Scarpa, Laetitia Crapard, L. L. de Frutos, R. M. Quintela, Elisa Meyer, Aurelien Thiers, C. Luzy   +18 more
semanticscholar   +1 more source

Gangliosidose GM1

2021
openaire   +1 more source

Use of wearable sensor technology to identify digital biomarkers for monitoring gait parameters in children and adolescents with GM1 and GM2 gangliosidoses

Molecular Genetics and Metabolism
R. M. Quintela, Noemie Hurst, L. L. de Frutos, Aurelien Thiers, C. Luzy, R. M. Pipke   +5 more
semanticscholar   +1 more source

A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Patients' and caregivers' assessments

Molecular Genetics and Metabolism
Roberto Giugliani, P. Harmatz, Bénédicte Héron, Marc Patterson, Susanne A Schneider, Aurélie Bourchany, Andreas Hahn, Daniel A.D. Valle, R. Barone, Brigitte Chabrol, Anna Ardissone, S. Batzios, Maurizio Scarpa, Nicoleta Carp, Laetitia Crapard, L. L. de Frutos, R. M. Quintela, Aurelien Thiers, C. Luzy   +18 more
semanticscholar   +1 more source

OP-104 Utilizing lactate dehydrogenase and aspartate transaminase as diagnostic biomarkers in GM2 gangliosidoses

Oral Presentation
Muhammet Terzioğlu, D. Türkdoğan, Emine Genç, Emel Yılmaz Gümüş, Gülten Öztürk, Şenol Demir, B. Geçkinli, Enver Yaya, B. Hişmi, S. Kılavuz   +9 more
semanticscholar   +1 more source

SARA subgroup analysis based on disease duration in a phase 2 trial evaluating N-acetyl-L-leucine in GM2 gangliosidoses

Molecular Genetics and Metabolism
M. Patterson, Janelle L. Raymond, Jorgji Kerthi, Bethany Zanrucha, Asante Hatcher, T. Fields, Ian Billington, M. Strupp, T. Bremova-Ertl, K. Martakis   +9 more
semanticscholar   +1 more source

Long-term results from the phase II trial (IB1001-202) evaluating N-acetyl-L-leucine in GM2 gangliosidoses

Molecular Genetics and Metabolism
M. Patterson, Bethany Zanrucha, Janelle L. Raymond, Asante Hatcher, Jorgji Kerthi, T. Fields, Ian Billington, M. Strupp, T. Bremova-Ertl, K. Martakis   +9 more
semanticscholar   +1 more source