Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings.

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作者： Maxime,Cadieux-Dion ^[1] ; Jennifer,Gannon ^[2] ; Brandon,Newell ^[3] ; Amy Jo,Nopper ^[4] ; Janda,Jenkins ^[3] ; Bryce,Heese ^[4] ; Carol,Saunders ^[3]

作者单位： Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA. ^[1] Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA. ^[2] University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA. ^[3] Division of Dermatology, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA. ^[4] Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA. ^[5]

关键词 multiple carboxylase deficiency neonatal screening rash

主题词生物素(Biotin);延迟诊断(Delayed Diagnosis);羧化酶合酶缺乏(Holocarboxylase Synthetase Deficiency);人类(Humans);鳞癣(Ichthyosis);发作(Seizures)

DOI 10.1111/pde.14586

PMID 33870574

发布时间 2021-07-07

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