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Farber disease in a patient from China.
Bao, Xudong; Ma, Mingsheng; Zhang, Zhenjie; Xu, Yiwen; Qiu, Zhengqing.
Affiliation
  • Bao X; Chinese Academy of Medical Science, Peking Union Medical College, Beijing, China.
  • Ma M; Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.
  • Zhang Z; Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.
  • Xu Y; Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.
  • Qiu Z; Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.
Am J Med Genet A ; 182(9): 2184-2186, 2020 09.
Article in En | MEDLINE | ID: mdl-32706452
ABSTRACT
Farber disease (FD) is a rare lysosomal storage disorder caused by mutation of the ASAH1 gene. Classic symptoms of FD include subcutaneous nodules, joint pain and hoarseness. Most patients die during childhood. Here we report a 25-year-old female FD patient with rare osteolytic changes of bilateral hands and toes. Genetic analysis revealed novel compound heterozygous mutations in the ASAH1 gene (c.427T>G and c.358G>C). Further research is needed to elucidate the pathophysiological course.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Lysosomal Storage Diseases / Genetic Predisposition to Disease / Farber Lipogranulomatosis / Acid Ceramidase Limits: Adult / Child / Female / Humans Country/Region as subject: Asia Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: China
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Lysosomal Storage Diseases / Genetic Predisposition to Disease / Farber Lipogranulomatosis / Acid Ceramidase Limits: Adult / Child / Female / Humans Country/Region as subject: Asia Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: China