遗传性代谢紊乱的临床和生化足迹。VII.眼部表型。
关键词: Eye IEMbase Inborn errors of metabolism Inherited metabolic disorders Ocular phenotypes Ophthalmologic Optic atrophy Retina
Mesh : Humans Metabolic Diseases / diagnosis genetics Phenotype Retinal Degeneration Vision Disorders
来 源:
DOI:10.1016/j.ymgme.2022.02.002
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