Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment
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چکیده
منابع مشابه
BRCA2 deficiency in mice leads to meiotic impairment and infertility.
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متن کاملFarber's disease (lysosomal acid ceramidase deficiency).
The patient presented with progressive joint deformity, a hoarse voice, subsequent cachexia, and myoclonic seizures. She was first seen aged 22 months and died aged 6 years. A diagnosis of Farber's disease was made by demonstrating a deficiency of acid ceramidase both in leucocytes and fibroblasts.
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ژورنال
عنوان ژورنال: The American Journal of Pathology
سال: 2019
ISSN: 0002-9440
DOI: 10.1016/j.ajpath.2018.10.018