Results 151 to 160 of about 3,309 (181)

Canine GM2-Gangliosidosis: Chemical and Enzymatic Features

1984
The chemical and enzymatic features in tissues of GM2-gangliosidosis are characterized by the analysis of glycolipids and FD-MS, and also by enzymatic analysis with DEAE-Sepharose column chromatography. The results suggest that canine GM2-gangliosidosis is equivalent to human juvenile GM2-gangliosidosis.
Y, Eto, L, Autilio-Gambetti, J T, McGrath   +2 more
openaire   +2 more sources

Substrate reduction therapy in juvenile GM2 gangliosidosis

Molecular Genetics and Metabolism, 2009
Substrate reduction therapy (SRT) is considered to be a potential therapeutic option for juvenile GM2 gangliosidosis (jGM2g). We evaluated the efficacy of SRT in jGM2g, assessing neurological, neuropsychological and brain magnetic resonance imaging (MRI) outcomes over a 24-month period of treatment.
Gustavo H B, Maegawa, Brenda L, Banwell, Susan, Blaser, Geoffrey, Sorge, Maggie, Toplak, Cameron, Ackerley, Cynthia, Hawkins, Jason, Hayes, Joe T R, Clarke   +8 more
openaire   +2 more sources

GM2-Gangliosidosis, AB variant

Acta Neuropathologica, 1975
Clinical and neuropathological studies of a case of AB variant GM2-gangliosidosis have been presented. The patient was a 14 months old black female infant who had "black cherry spot" in the retinas. The total activities of beta-galactosidase and N-acetyl-beta-hexosaminidase, as well as the proportion of hexosaminidase A and B components in her serum ...
Cecile M. de Baecque, Kinuko Suzuki, Isabelle Rapin, Anne B. Johnson, Doris L. Whethers, Kunihiko Suzuki   +5 more
openaire   +2 more sources

Late onset GM2 gangliosidosis mimicking spinal muscular atrophy

Gene, 2013
A case of late onset GM2 gangliosidodis with spinal muscular atrophy phenotype followed by cerebellar and extrapyramidal symptoms is presented. Genetic analysis revealed compound heterozygous mutation in exon 10 of the HEXA gene. Patient has normal intelligence and emotional reactivity.
Z, Jamrozik, A, Lugowska, M, Gołębiowski, L, Królicki, J, Mączewska, M, Kuźma-Kozakiewicz   +5 more
openaire   +2 more sources

Adult (Chronic) GM2 Gangliosidosis

Archives of Neurology, 1976
Two adult Ashkenazi Jewish siblings have had slowly progressive deterioration of gait and posture since early childhood, distal to proximal muscle atrophy, pes cavus, foot drop, spasticity, mild ataxia of limbs and trunk, dystonic features, and dysarthria.
I, Rapin, K, Suzuki, K, Suzuki, M P, Valsamis   +3 more
openaire   +2 more sources

Recurrent Psychotic Depression Associated With GM2 Gangliosidosis

Psychosomatics, 1998
Received May 24, 1996; revised October 7, 1996; accepted October 18, 1996. From the Psychiatry Service, Ralph H. Johnson Veterans Affairs (VA) Medical Center, Charleston, South Carolina. Address reprint requests to Dr. Hamner, Psychiatry Service (116A), Ralph H. Johnson VA Medical Center, 109 Bee Street, Charleston, SC 29401. Copyright 1998 The Academy
openaire   +2 more sources

GM2 gangliosidosis variant B1 neuroradiological findings.

Journal of neurology, 2003
Variant B1 is a rare type of GM2 gangliosidosis. Clinically, it shows a wide spectrum of forms ranging from infantile to juvenile. We report the first magnetic resonance imaging (MRI) findings from three patients affected by GM2 gangliosidosis variant B1, two presenting with the infantile form and one with the juvenile form.
Grosso, S., Farnetani, M. A., Berardi, R., Margollicci, M., Galluzzi, P., Vivarelli, R., Morgese, G., Balestri, P.   +7 more
openaire   +3 more sources

GM2-gangliosidosis

Clinical Neurology and Neurosurgery, 1990
P. Praamstra, R.A. Wevers, F.J.M. Gabreëls, J.J. Rotteveel, W.O. Renier, R.C.A. Sengers, K.J.B. Lamers   +6 more
openaire   +1 more source

STEM CELLS AND GM2 GANGLIOSIDOSIS

2005
Relazione su ...
MARTINO, Sabata, ORLACCHIO, Aldo
openaire   +1 more source

GM2 gangliosidosis variant B1

Journal of Neurology, 2003
Salvatore Grosso, Maria Angela Farnetani, Rosario Berardi, Maria Margollicci, Paolo Galluzzi, Rossella Vivarelli, Guido Morgese, Paolo Ballestri   +7 more
openaire   +1 more source