Results 151 to 160 of about 3,309 (191)

Natural History of Adult Patients with GM2 Gangliosidosis

Annals of Neurology, 2020
ObjectiveGM2 gangliosidoses are lysosomal diseases due to biallelic mutations in the HEXA (Tay–Sachs disease [TS]) or HEXB (Sandhoff disease [SD]) genes, with subsequent low hexosaminidase(s) activity. Most patients have childhood onset, but some experience the first symptoms during adolescence/adulthood.
Marion Masingue, Louis Dufour, Timothée Lenglet, Lisa Saleille, Cyril Goizet, Xavier Ayrignac, Fabienne Ory‐Magne, Magali Barth, Foudil Lamari, Daniele Mandia, Catherine Caillaud, Yann Nadjar   +11 more
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A new variant of Type-AB GM2-gangliosidosis

Biochemical and Biophysical Research Communications, 1981
Abstract A patient diagnosed as having Type-AB GM2-gangliosidosis was found to have a defect in β-hexosaminidase A, but not in the activator (GM2-activator) specific for the enzymic hydrolysis of GM2 ganglioside. β-Hexosaminidase A and B isolated from the brain of the patient showed normal activity toward synthetic substrates, but could not hydrolyze
S C, Li, Y, Hirabayashi, Y T, Li
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Identification of GM2‐gangliosidosis B1 variant carriers

Journal of Inherited Metabolic Disease, 1993
SummaryGM2‐gangliosidosis B1 variant, considered a rare disorder with a wide geographical and ethnic distribution, appears to be exceptionally frequent in Portugal. In order to establish a carrier detection method for this disease we have determined the ratio of enzymatic activities against 4MUGS and 4MUG in urine from B1 variant obligate carriers and ...
M G, Ribeiro, R, Pinto, P, Oliveira, M C, Sá Miranda   +3 more
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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 Banwell, Susan Blaser   +2 more
exaly   +3 more sources

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
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Progressive dystonia symptomatic of juvenile GM2 gangliosidosis

Movement Disorders, 1992
AbstractA 9‐year‐old boy showed a progressive generalized dystonia, with onset at the age of 4 years, combined with mental deterioration and behavioral disturbances. The values of β‐hexosaminidase activities studied in plasma, leukocytes, and fibroblasts obtained using two different substrates (MUG‐NAc and MUG‐NAc‐6‐S) were significantly reduced but ...
N, Nardocci, B, Bertagnolio, V, Rumi, L, Angelini   +3 more
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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
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The pathology of feline GM2 gangliosidosis.

The American journal of pathology, 1978
An 11-week-old and a 6-month-old kitten with feline GM2 gangliosidosis and deficiency in both A and B isoenzymes of beta-D-N-acetyl hexosaminidase were studied by light transmission (TEM), and scanning electron microscopy (SEM). Neurons throughout the nervous system contained cytoplasmic, membrane-bound inclusions which were PAS-positive at the fine ...
L C, Cork, J F, Munnell, M D, Lorenz
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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
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STEM CELLS AND GM2 GANGLIOSIDOSIS

2005
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MARTINO, Sabata, ORLACCHIO, Aldo
openaire   +1 more source