Results 141 to 150 of about 3,309 (181)

[Gangliosidosis GM2 type 2 (Sandhoff disease)].

Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion, 1985
J, Sánchez-Corona, G, Vaca, S A, González-Flores, V, Villar, M T, Solé, L O, Barajas, R, Velázquez, J, Valdez-Luviano, J M, Cantú   +8 more
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Testing sheep for GM2 gangliosidosis

Veterinary Record, 2014
GM2 gangliosidosis (Tay-Sachs disease) in British Jacob sheep was reported in Veterinary Record by Wessels and colleagues ( VR , January 4, 2014, vol 174, pp 20-21). These authors described the clinical and pathological findings associated with this disabling disease, which is inherited as an autosomal recessive condition.
Lewis, Chris, Wessels, Mark, Carty, Helen, Baird, Pauline, Cox, Timothy, Cachón, Begoña, Wang, Susan, Holmes, Paul, Mackintosh, Adrienne, Chianini, Francesca   +9 more
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GM2 Gangliosidosis in British Jacob Sheep

Journal of Comparative Pathology, 2014
GM2 gangliosidosis (Tay-Sachs disease) was diagnosed in 6- to 8-month-old pedigree Jacob lambs from two unrelated flocks presenting clinically with progressive neurological dysfunction of 10 day's to 8 week's duration. Clinical signs included hindlimb ataxia and weakness, recumbency and proprioceptive defects.
M E, Wessels, J P, Holmes, M, Jeffrey, M, Jackson, A, Mackintosh, E H, Kolodny, B J, Zeng, C B, Wang, S F E, Scholes   +8 more
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Psychiatric Features of Adult GM2 Gangliosidosis

British Journal of Psychiatry, 1989
The report describes three unrelated Ashkenazi Jewish women with adult GM2gangliosidosis in whom mental symptoms were prominent, mimicking different psychiatric disorders, and thus delaying accurate diagnosis.
J, Streifler, M, Golomb, N, Gadoth
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GM2 Gangliosidosis

1989
GM2 gangliosidoses are inherited disorders involving sphingolipid storage. There are three major, biochemically distinct types: B, O, and AB. Type B is the classical Tay-Sachs disease (TSD) and type O is equivalent to Sandhoff’s disease (SD).
Jacob Valk, Marjo S. van der Knaap
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GM2 gangliosidosis in a Japanese Spaniel

Acta Neuropathologica, 1985
A storage disease in a 2-year-old Japanese Spaniel resembled a GM2 gangliosidosis previously identified in a now extinct line of German Shorthaired Pointers. Despite a later appearance of signs in the Japanese Spaniel, the distribution, staining, and ultrastructure of the stored material were similar in the two breeds.
J F, Cummings, P A, Wood, S U, Walkley, A, de Lahunta, M E, DeForest   +4 more
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Mutation in GM2‐Gangliosidosis B1 Variant

Journal of Neurochemistry, 1988
Abstract: Fibroblasts from a patient with GM2‐gangliosidosis B1 variant contained mRNA of normal size but in reduced quantity for the β‐hexosaminidase α subunit. The nucleotide sequence of a cDNA clone that included the entire protein coding sequence was completely normal except for a sinde base substitution from G to A at no.
K, Ohno, K, Suzuki
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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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GM2 Gangliosidosis in an Adult Pet Rabbit

Journal of Comparative Pathology, 2013
A 1.5-year-old neutered male rabbit was presented with chronic nasal discharge and ataxia. Rapid progression of neurological signs was noted subsequent to general anaesthesia and the rabbit was humanely destroyed due to the poor prognosis. At necropsy examination there were no gross changes affecting the brain or spinal cord.
T, Rickmeyer, S, Schöniger, A, Petermann, K, Harzer, B, Kustermann-Kuhn, H, Fuhrmann, H-A, Schoon   +6 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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