ANGIOKERATOMA CORPORIS DIFFUSUM
\ˌaŋɡɪˌə͡ʊkɹɐtˈə͡ʊmə kˈɔːpɔːɹˌɪs dɪfjˈuːsəm], \ˌaŋɡɪˌəʊkɹɐtˈəʊmə kˈɔːpɔːɹˌɪs dɪfjˈuːsəm], \ˌa_ŋ_ɡ_ɪ__ˌəʊ_k_ɹ_ɐ_t_ˈəʊ_m_ə k_ˈɔː_p_ɔː_ɹ_ˌɪ_s d_ɪ_f_j_ˈuː_s_ə_m]\
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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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Word of the day
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.