What is Gangliosidosis GM1 Type II? GM1 gangliosidosis type II (juvenile systemic lipidosis, Derry disease) differs phenotypically from GM1 gangliosidosis type I usually with a late onset (after the first year of life), slow progression,
Continue readingWhat is Krabbe Disease (Globoid Cell Leukodystrophy)? Krabbe disease (globoid cell leukodystrophy) is a rapidly progressive demyelinating degenerative disease of the central nervous system. Causes of Krabbe Disease (Globoid Cell Leukodystrophy) The type of inheritance
Continue readingWhat is Wilson-Konovalov Disease (Hepatocerebral Dystrophy)? Wilson-Konovalov disease or hepatocerebral dystrophy or hepatolentic degeneration or Westphal-Wilson-Konovalov disease is a congenital disorder of copper metabolism, leading to severe hereditary diseases of the central nervous system and
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