| Literature DB >> 3438057 |
S P Dhir1, M W Shisku, A Krewi.
Abstract
Two patients, a brother and sister, presenting with reduced visual acuity, nystagmus, hypopigmentation of the maculae, head nodding, dysarthria and other neuromuscular incoordinations are reported. They were found to be suffering from histidinaemia by aminoacid analysis of urine.Entities:
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Year: 1987 PMID： 3438057 DOI： 10.3109/13816818709031465
Source DB: PubMed Journal: Ophthalmic Paediatr Genet ISSN： 0167-6784