PARTIAL ARGININOSUCCINIC ACID SYNTHETASE DEFICIENCY DISEASE
\pˈɑːʃə͡l ˌɑːd͡ʒɪnˌɪnəsəksˈɪnɪk ˈasɪd sˈɪnθɪtˌe͡ɪs dɪfˈɪʃənsi dɪzˈiːz], \pˈɑːʃəl ˌɑːdʒɪnˌɪnəsəksˈɪnɪk ˈasɪd sˈɪnθɪtˌeɪs dɪfˈɪʃənsi dɪzˈiːz], \p_ˈɑː_ʃ_əl ˌɑː_dʒ_ɪ_n_ˌɪ_n_ə_s_ə_k_s_ˈɪ_n_ɪ_k ˈa_s_ɪ_d s_ˈɪ_n_θ_ɪ_t_ˌeɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z]\
Definitions of PARTIAL ARGININOSUCCINIC ACID SYNTHETASE DEFICIENCY DISEASE
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A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)
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Proto Oncogene Proteins c erbB 2
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Nearby Words
- partial account
- partial agglutination
- partial anencephalies
- partial anencephaly
- partial anesthesia
- Partial Argininosuccinic Acid Synthetase Deficiency Disease
- partial barrier option
- partial breach
- partial cataract
- partial compensation
- partial correlation