BIOTIN RESPONSIVE ENCEPHALOPATHIES
\bˌa͡ɪə͡ʊtˈɪn ɹɪspˈɒnsɪv ɛnsˌɛfɐlˈɒpəθɪz], \bˌaɪəʊtˈɪn ɹɪspˈɒnsɪv ɛnsˌɛfɐlˈɒpəθɪz], \b_ˌaɪ_əʊ_t_ˈɪ_n ɹ_ɪ_s_p_ˈɒ_n_s_ɪ_v ɛ_n_s_ˌɛ_f_ɐ_l_ˈɒ_p_ə_θ_ɪ_z]\
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A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.
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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.-.
Nearby Words
- biotic
- biotic community
- biotics
- biotidin
- biotin
- Biotin Responsive Encephalopathies
- biotin responsive encephalopathy
- biotine
- biotinidase deficiencies
- biotinidase deficiency
- biotinylation