Results 171 to 180 of about 3,090 (194)

Prenatal diagnosis of GM2-gangliosidosis

Brain and Development, 1993
Hitoshi Sakuraba, Kohji Itoh, Masaharu Kotani, Tadashi Tai, Hideo Yamada, Kenji Kurosawa, Yoshikazu Kuroki, Hiroshi Suzuki, Toru Utsunomiya, Hisako Inoue, Yoshiyuki Suzuki   +10 more
openaire   +1 more source

Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis

Molecular Genetics and Metabolism, 2023
exaly  

Biochemical Basis of Type AB GM2Gangliosidosis in a Japanese Spaniel

Journal of Neurochemistry, 1987
Su-Chen Li, Philip A Wood, Yu-Teh Li
exaly  

GM2 Gangliosidosis

2005
openaire   +1 more source

Juvenile GM 2 Gangliosidosis Variant B 1: Clinical and Biochemical Study in Seven Patients

Neuropediatrics, 1990
Mauricio Maia, M C Sa Miranda
exaly  

A freeze-fracture study on GM2 gangliosidosis.

Clinical neuropathology, 1986
Membranous cytoplasmic bodies (MCBs) in neurons from an autopsy case with Tay-Sachs disease were investigated using the freeze-fracture technique. Despite formalin fixation for months, the structures of storage material were well preserved and showed complex and compound MCBs with typical arrangement of lamellae. Each lamella consisted of a clear space
openaire   +1 more source

Fluorescence Polarization Analysis, Lipid Composition, and Na+, K+-ATPase Kinetics of Synaptosomal Membranes in Feline GM1and GM2Gangliosidosis

Journal of Neurochemistry, 1985
P A Wood, Henry J Baker, Samuel T Christian   +2 more
exaly  

LATE ONSET GM2 GANGLIOSIDOSIS

Journal of Neuropathology and Experimental Neurology, 1999
openaire   +1 more source

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)

Molecular Genetics and Metabolism, 2011
Don J Mahuran, Swati Sathe, Edwin H Kolodny   +2 more
exaly  

GM2 Gangliosidosis Type I

2009
David J. Timson, Richard J. Reece, James B. Thoden, Hazel M. Holden, Andrea L. Utz, Beverly M. K. Biller, Eugen-Matthias Strehle, Markus Böhm, Thomas A. Luger, Alexander K. C. Leung, Andrew L. Wong, Markus G. Donner, Dieter Häussinger, Nirmal S. Mann, Marcus Schmitt, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Manisha Balwani, Ainu Prakash-Cheng*, Robert J. Desnick, Holger Lerche, Ingrid E. Scheffer, Samuel F. Berkovic, Brigitte M. Lobnig, Peter L. M. Jansen, Siegfried Waldegger, Florian Lang, Hugo ten Cate, Hagen Thieme, Michael Weller, Bärbel Schütte, Ronnie Fass, Hideki Kato, Masaomi Nangaku, Hideki Kato, Masaomi Nangaku, Anthony Chang, Pradeep V. Kadambi, Jessy J. Alexander, Pierre Ronco, Hanna Debiec, Christian Hugo, Brigitte M. Lobnig, Brigitte M. Lobnig, John-John B. Schnog, Victor E. A. Gerdes, Jean Francis, David S. Geller, Knut Brockmann, Dong Wang, Darryl C. Vivo, Stefan Kölker, Stefan Kölker, Elardus Erasmus, Lodewyk J. Mienie, John Vissing, Arnold Reuser, Catherine E. Correia, David A. Weinstein, Joseph I. Wolfsdorf, Yoon S. Shin, Reinout P. Hesselink, Maarten R. Drost, Anton J. M. Wagenmakers, Ger J. Vusse, Stefan Kiechl, Jonas Denecke, Ute Schepers, Thomas Kolter, Konrad Sandhoff, Dianna C. Martin, Barbara L. Triggs-Raine, Seda Sancak, Ralf Paschke, Dorin-Bogdan Borza, Sonja Ständer, Heiko Traupe, Michael A. Becker, Hanneke M. Straaten, Leo F. Verdonck, Hugo Ten Cate, Martin Mempel, Dietrich Abeck, Ismat Ghanem, Samer El Hage, Johannes G. Bode, Thomas A. Fleisher, Steven M. Holland, Bennett Myers, David Herrmann, Zaki Kraiem, Yaron Tomer, Terry F. Davies, James G. White, Sylvia Stöckler-Ipsiroglu, Guido Stoll, Klaus V. Toyka, Valéria Lamounier-Zepter, Klaus Ruether   +99 more
openaire   +1 more source