全羧化酶合成酶基因新发突变致以皮肤为首发症状的多种羧化酶缺乏症一例
李云玲 郑惠文 李寅 王丽华 李薇 郭小璇 黄春兰 周沙 黄新文 吕中法
A case of multiple carboxylase deficiency presenting with skin lesions as the initial symptom induced by a novel mutation in the holocarboxylase synthetase gene
ling yunli Yin Li hua liwang xuan xiaoguo lan chunhuang Sha Zhou wen xinhuang
中华皮肤科杂志 . 2019, (11): 829 -832 .  DOI: 10.35541/cjd.20180819