Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum
نویسندگان
چکیده
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.
منابع مشابه
A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency
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ورودعنوان ژورنال:
دوره 2018 شماره
صفحات -
تاریخ انتشار 2018