FABRY DISEASE
\fˈabɹi dɪzˈiːz], \fˈabɹi dɪzˈiːz], \f_ˈa_b_ɹ_i d_ɪ_z_ˈiː_z]\
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Lysosomal storage disease caused by a deficiency of alpha-galactosidase A and resulting in an accumulation of globotriaosylceramide in the renal and cardiovascular systems. The disease is X-linked and is characterized by telangiectatic skin lesions, renal failure, and disturbances of the cardiovascular, gastrointestinal, and central nervous systems.
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Platidiam
- An inorganic water-soluble platinum complex. After undergoing hydrolysis, it reacts DNA produce both intra interstrand crosslinks. These crosslinks appear to impair replication and transcription of DNA. The cytotoxicity cisplatin correlates with cellular arrest in G2 phase cell cycle.