换一批
换一批Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation.
作者：
主题词
成年人(Adult);精氨酸(Arginine);膳食, 限制蛋白质(Diet, Protein-Restricted);视网膜电描记术(Electroretinography);女(雌)性(Female);荧光素血管造影术(Fluorescein Angiography);随访研究(Follow-Up Studies);环状萎缩(Gyrate Atrophy);人类(Humans);突变(Mutation);鸟氨酸(Ornithine);鸟氨酸-氧-酸转氨酶(Ornithine-Oxo-Acid Transaminase);体层摄影术, 光学相干(Tomography, Optical Coherence);视敏度(Visual Acuity);视野测试(Visual Field Tests);视野(Visual Fields)
DOI
10.1007/s10633-012-9335-0
PMID
22674428
发布时间
2021-10-21
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