BIOTIN RESPONSIVE ENCEPHALOPATHY
\bˌa͡ɪə͡ʊtˈɪn ɹɪspˈɒnsɪv ɛnsˌɛfɐlˈɒpəθɪ], \bˌaɪəʊtˈɪn ɹɪspˈɒnsɪv ɛnsˌɛfɐlˈɒpəθɪ], \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]\
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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.
By DataStellar Co., Ltd
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Nearby Words
- biotic community
- biotics
- biotidin
- biotin
- biotin responsive encephalopathies
- Biotin Responsive Encephalopathy
- biotine
- biotinidase deficiencies
- biotinidase deficiency
- biotinylation
- biotinylations