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2010
The GM2 gangliosidoses represent a heterogeneous group of lysosomal storage diseases characterised by the deposition of GM2 ganglioside and related glycolipids. They are inherited in an autosomal recessive manner. The basis for the various forms of GM2 gangliosidoses lies in the multifaceted catabolism of GM2 ganglioside, which requires complex ...
Margit Pavelka, Jürgen Roth
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The GM2 gangliosidoses represent a heterogeneous group of lysosomal storage diseases characterised by the deposition of GM2 ganglioside and related glycolipids. They are inherited in an autosomal recessive manner. The basis for the various forms of GM2 gangliosidoses lies in the multifaceted catabolism of GM2 ganglioside, which requires complex ...
Margit Pavelka, Jürgen Roth
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Gangliosidoses and the Fetal Retina
Ophthalmology, 1984Abnormal membranous cytoplasmic inclusions were found in the retinal ganglion cells of two fetuses with gangliosidosis. One was a documented case of incipient Tay-Sachs disease (Gm2) and the other a case of generalized gangliosidosis (Gm1). Both specimens were obtained iatrogenically in the 20th to 21st week of gestation after amniocentesis had ...
D G, Cogan +3 more
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Morphology of the Gangliosidoses
Neuropediatrics, 1984GM1 and GM2 gangliosidoses are progressive neurodegenerative diseases which accumulate intralysosomal gangliosides--and to a lesser extent oligosaccharides--chiefly in the central and peripheral nervous system owing to deficiencies of beta-galactosidase and hexosaminidases A or/and B, respectively.
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Nomenclature of GM2–gangliosidoses
Clinical Genetics, 1980As a supplement to the recently proposed systematic nomenclature for the genotypes and phenotypes of GM2–gangliosidoses (O'Brien 1978b), it is suggested that guidelines be adopted for the use of eponyms and type designations in connection with this group of sphingolipidoses.
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Serial 1H-MRS in GM2 gangliosidoses
European Journal of Pediatrics, 2007GM2 gangliosidoses are a group of neuronal storage disorders caused by deficiency in the lysosomal enzyme hexosaminidase A. Clinically, the disease is marked by a relentless encephalopathy. Proton magnetic resonance spectroscopy (1H-MRS) provides in-vivo measurement of various brain metabolites including N-acetyl aspartate+N-acetyl aspartate glutamate (
Mitra, Assadi +5 more
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GM1 Gangliosidose und dilatative Cardiomyopathie
Klinische Pädiatrie, 1990We report a child with a rare cardiac involvement in GM1 gangliosidosis. At the age of 9 months a secondary dilatative cardiomyopathy due to the metabolic disorder was diagnosed. During 2 years the functional echocardiographic signs became normal, though the ECG still was not normal.
B. Simma, W. Sperl, I. Hammerer
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Aspects Électro-Cliniques Des Gangliosidoses
Revue d&'apos;Electroencéphalographie et de Neurophysiologie Clinique, 1978Summary The gangliosidoses belong to the family of diseases known as the lipidoses and are due to an excess of ganglioside I (GM1) or II (GM2). The illness described by Landing belongs to Group I , whilst Tay-Sachs and Sandhoff's disease are type 2 .
M WEBER, O BROCARD, M VIDAILHET
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Biochemistry of Gangliosidoses
1985Lipid storage disorders comprise a rather heterogeneous group of progredient and often fatal diseases which mainly disable the nervous system. The biochemical analysis of these diseases led to the discovery of several glycosphingolipids and triggered the investigation of their metabolism.
K. Sandhoff, E. Conzelmann
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The Gangliosidoses: Comparative Features and Research Applications
Veterinary Pathology, 1979Ganglioside storage diseases are inherited defects of lysosomal hydrolases that result in intralysosomal accumulation of gangliosides and other complex metabolites. Gangliosidoses occur in man, cats, cattle, dogs and swine. In all species, these diseases are characterized clinically by relentlessly progressive neurological deterioration.
H J, Baker +4 more
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Diagnosing Lysosomal Storage Disorders: The GM2 Gangliosidoses
Current Protocols in Human Genetics, 2014AbstractThe GM2 gangliosidoses are a group of autosomal recessive lysosomal storage disorders caused by defective β‐hexosaminidase. There are three clinical conditions in this group: Tay‐Sachs disease (TSD), Sandhoff disease (SD), and hexosaminidase activator deficiency. The three conditions are clinically indistinguishable.
Patricia, Hall +3 more
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