HEMERALOPIA HEREDOATAXIA POLYNEURITIFORMI
\hˌɛməɹɐlˈə͡ʊpi͡ə hɪɹˌɛdə͡ʊtˈe͡ɪksi͡ə pˌɒlɪnjˈuːɹɪtˌɪfɔːmˌi], \hˌɛməɹɐlˈəʊpiə hɪɹˌɛdəʊtˈeɪksiə pˌɒlɪnjˈuːɹɪtˌɪfɔːmˌi], \h_ˌɛ_m_ə_ɹ_ɐ_l_ˈəʊ_p_iə h_ɪ_ɹ_ˌɛ_d_əʊ_t_ˈeɪ_k_s_iə p_ˌɒ_l_ɪ_n_j_ˈuː_ɹ_ɪ_t_ˌɪ_f_ɔː_m_ˌi]\
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An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY, sensorineural DEAFNESS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and cardiomyopathy. CEREBROSPINAL FLUID PROTEINS and serum PHYTANIC ACID are generally elevated. This condition is associated with the impaired metabolism of phytanic acid in PEROXISOMES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17 (5):391-8)
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Health Personnel Attitudes
- Attitudes of personnel toward their patients, other professionals, the medical care system, etc.
Nearby Words
- hemendocarde
- hemendothelioma
- hemeproteins
- hemera
- hemeralopia
- Hemeralopia Heredoataxia Polyneuritiformi
- hemeralopia heredoataxia polyneuritiformis
- hemeralopias
- hemeralopla
- hemeralops
- hemeranthous