Gaucher disease is a rare lipid storage disorder caused by mutations in the GBA1 gene, which encodes the enzyme β-glucocerebrosidase.…
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Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to a deficiency…
Batten disease, a rare and devastating neurodegenerative disorder, affects children and leads to severe physical and mental deterioration. While there…
Rare genetic disorders, once thought to affect only small portions of the population, are becoming increasingly prevalent due to better…