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GM2-gangliosidosis, AB variant

  • Kartonierter Einband
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High Quality Content by WIKIPEDIA articles! GM2-gangliosidosis, AB variant is a rare, autosomal recessive metabolic disorder that ... Weiterlesen
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Beschreibung

High Quality Content by WIKIPEDIA articles! GM2-gangliosidosis, AB variant is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve cells in the brain and spinal cord. It has a similar pathology to Sandhoff disease and Tay-Sachs disease. The three diseases are classified together as the GM2 gangliosidoses, because each disease represents a distinct molecular point of failure in the activation of the same enzyme, beta-hexosaminidase. AB variant is caused by a failure in the gene that makes an enzyme cofactor for beta-hexosaminidase, called the GM2 activator. AB variant was first observed clinically shortly after the biochemical characterization of Tay-Sachs disease in 1969. The disease was initially thought to be caused by variant alleles of the HEXA gene, and Konrad Sandhoff designated it as AB variant in 1971. Enzyme assay tests of TSD patients revealed a few unusual false negative cases, patients who developed the disease, yet had normal enzyme activity. In other cases, parents who had not tested as carriers for TSD had children who nevertheless became ill with the symptoms of classic infantile TSD.

Produktinformationen

Titel: GM2-gangliosidosis, AB variant
Editor:
EAN: 9786131628610
Format: Kartonierter Einband
Genre: Medizin
Anzahl Seiten: 72