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An autopsy case of infantile GM1 gangliosidosis with adrenal calcification

✍ Scribed by Ritambhra Nada; Kirti Gupta; Sadhna Bhasin Lal; Rakesh Kumar Vasishta


Publisher
Springer
Year
2011
Tongue
English
Weight
391 KB
Volume
26
Category
Article
ISSN
0885-7490

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πŸ“œ SIMILAR VOLUMES


Four novel mutations in patients from th
✍ T. Georgiou; A. Drousiotou; Y. Campos; A. Caciotti; L. Sztriha; A. Gururaj; P. O πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 253 KB

GM1-gangliosidosis is a lysosomal storage disorder caused by a deficiency of beta-galactosidase. It is mainly characterized by progressive neurodegeneration and in its most severe infantile form it leads to death before the age of four. We have performed molecular analysis of five patients with the

A homozygous missense arginine to histid
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We have studied, by the polymerase chain reaction, the beta-galactosidase cDNA from several Italian patients with infantile GM1-gangliosidosis. One homozygote for a previously undiscovered G > A mutation at position 1479, causing an arginine to histidine change, was detected. The same mutation, in h

Generalised dystonia with an abnormal ma
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## Abstract We describe a 46‐year‐old woman with adult‐onset generalised dystonia and a severe speech disorder with an abnormal magnetic resonance imaging signal in the basal ganglia. A storage disease study demonstrated the presence of a GM1 gangliosidosis. This rare condition should be investigat