英语词汇“Gaucher disease”的英英意思、用法、释义、翻译、读音、例句、短语、词组-英语词典

Medical Definition

Gaucher disease

noun

Gau·cher disease ˌgō-ˈshā- How to pronounce Gaucher disease (audio)

variants or Gaucher's disease

: a rare hereditary disorder of lipid metabolism that is caused by an enzyme deficiency of glucocerebrosidase, that is characterized by extreme enlargement of the spleen, pigmentation of the skin, and bone lesions, and that is marked by the presence of large amounts of glucocerebroside in the cells of the mononuclear phagocyte system

Note: Gaucher disease is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome.

In the U.S., Gaucher disease is most common among descendants of Eastern European Jews, but also appears in the non-Jewish population.

Greg Johnson, The Los Angeles Times

Gaucher's disease is caused by a recessive mutation in the enzyme that cleaves glucose from the lipid portion of sphingolipids.

Gina Kolata, Science

单词	Gaucher disease
释义	Gaucher disease noun Gau·cher disease (ˌ)gō-ˈshā- variants or Gaucher's disease (ˌ)gō-ˈshāz- : a rare hereditary disorder of lipid metabolism caused by an enzyme deficiency and characterized by enlargement of the spleen and liver, bone lesions, and sometimes neurological impairment Note: Gaucher disease is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome. Word History Etymology Philippe C. E. Gaucher †1918 French physician First Known Use 1902, in the meaning defined above Medical Definition Gaucher disease noun Gau·cher disease ˌgō-ˈshā- variants or Gaucher's disease : a rare hereditary disorder of lipid metabolism that is caused by an enzyme deficiency of glucocerebrosidase, that is characterized by extreme enlargement of the spleen, pigmentation of the skin, and bone lesions, and that is marked by the presence of large amounts of glucocerebroside in the cells of the mononuclear phagocyte system Note: Gaucher disease is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome. In the U.S., Gaucher disease is most common among descendants of Eastern European Jews, but also appears in the non-Jewish population. Greg Johnson, The Los Angeles Times Gaucher's disease is caused by a recessive mutation in the enzyme that cleaves glucose from the lipid portion of sphingolipids. Gina Kolata, Science
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Gaucher disease

noun

Word History

Medical Definition

noun