What is Fabry Disease? Fabry disease is a rare genetic disorder that prevents the body from making an enzyme called alpha-galactosidase A. Read More
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fabry disease
Azorean Disease Azorean disease causes progressive degeneration of the central nervous system. Affected individuals experience deterioration in muscle coordination and other physical Read More
Yunis Varon Syndrome It is possible that the main title of the report Yunis Varon Syndrome is not the name you expected. Read More
Giant Axonal Neuropathy Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization of neurofilaments. Neurofilaments form a structural Read More
Alobar Holoprosencephaly Alobar holoprosencephaly is a subtype of holoprosencephaly (HPE), and is the most severe of the classical three subtypes, with both Read More
What is Medium Chain Acyl-CoA Dehydrogenase Deficiency? Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is a treatable inherited disease in which the body Read More