MUCOSULFATIDOSES
\mjˈuːkəsˌʌlfɐtˌɪdə͡ʊzɪz], \mjˈuːkəsˌʌlfɐtˌɪdəʊzɪz], \m_j_ˈuː_k_ə_s_ˌʌ_l_f_ɐ_t_ˌɪ_d_əʊ_z_ɪ_z]\
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A group of inherited metabolic disorders characterized by an excessive intra-lysosomal deposition of glycosphingolipids and phosphosphingolipids in the CENTRAL NERVOUS SYSTEM and, to a variable degree, in visceral structures. Clinical features vary with the specific subtype of the disease, but common features include progressive deterioration in psychomotor and visual function. (From Arch Neurol 1998 Aug;55 (8):1055-6; Menkes, Textbook of Child Neurology, 5th ed, p89)
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Proto Oncogene Proteins c erbB 2
- cell surface protein-tyrosine kinase that is found to be overexpressed in significant number adenocarcinomas. It has extensive homology can heterodimerize EGF EPIDERMAL GROWTH FACTOR), 3 receptor (RECEPTOR, 3) and the 4 receptor. Activation of erbB-2 receptor occurs during heterodimer formation with a ligand-bound erbB family members. EC 2.7.11.-.