GANGLIOSIDE SIALIDASE DEFICIENCY DISEASE
\ɡˈaŋɡlɪˌɒsa͡ɪd sˈa͡ɪəlˌɪde͡ɪs dɪfˈɪʃənsi dɪzˈiːz], \ɡˈaŋɡlɪˌɒsaɪd sˈaɪəlˌɪdeɪs dɪfˈɪʃənsi dɪzˈiːz], \ɡ_ˈa_ŋ_ɡ_l_ɪ__ˌɒ_s_aɪ_d s_ˈaɪ_ə_l_ˌɪ_d_eɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z]\
Sort: Oldest first
-
A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. Mental retardation and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)
By DataStellar Co., Ltd
Word of the day
Procollagen Proline Dioxygenase
- mixed-function oxygenase that catalyzes hydroxylation prolyl-glycyl-containing-peptide, usually in protocollagen, hydroxyprolylglycyl-peptide. The enzyme utilizes molecular oxygen with a concomitant oxidative decarboxylation of 2-oxoglutarate to succinate. EC 1.14.11.2.