| Literature DB >> 29488049 |
Pin Fee Chong1, Kimitoshi Nakamura2, Ryutaro Kira3.
Abstract
Fabry disease is a treatable progressive illness of inborn error causing eventual multiple organ dysfunction in advanced untreated cases. We report on a classic Fabry child patient presenting with urinary mulberry cells and bodies without renal involvement. This report emphasizes the usefulness of urinary microscopic findings in the early diagnosis of Fabry disease.Entities:
Mesh:
Year: 2018 PMID: 29488049 DOI: 10.1007/s10545-018-0155-6
Source DB: PubMed Journal: J Inherit Metab Dis ISSN: 0141-8955 Impact factor: 4.982