Tay syndrome - PubMed
pubmed.ncbi.nlm.nih.gov › 18376101Tay syndrome or IBIDS is a rare autosomal recessive genetic disorder characterized by congenital ichthyosis and abnormal brittle hair (trichothiodystrophy). Other features include photosensitivity, abnormal nails and multiple developmental defects affecting organs mainly derived from neuroectoderm. …
Tay-Sachs Disease - StatPearls - NCBI Bookshelf
www.ncbi.nlm.nih.gov › books › NBK564432Jan 25, 2023 · Tay Sachs disease (TSD) is a progressive, lethal neurodegenerative disorder caused by a deficiency of enzyme hexosaminidase-A resulting in the accumulation of GM2 gangliosides. Based on the presentation age, the disease is classified into infantile, juvenile, and adult forms. Early diagnosis of Tay Sachs is clinically challenging because of ...