elliptocytosis syndromes

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英文文献

  • Abnormalities of the erythrocyte membrane.
  • Gallagher PG1.
  • Pediatric clinics of North America.Pediatr Clin North Am.2013 Dec;60(6):1349-62. doi: 10.1016/j.pcl.2013.09.001. Epub 2013 Oct 15.
  • Primary abnormalities of the erythrocyte membrane are characterized by clinical, laboratory, and genetic heterogeneity. Among this group, hereditary spherocytosis patients are more likely to experience symptomatic anemia. Treatment of hereditary spherocytosis with splenectomy is curative in most pat
  • PMID 24237975
  • Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability.
  • Gazou A1, Riess A, Grasshoff U, Schäferhoff K, Bonin M, Jauch A, Riess O, Tzschach A.
  • American journal of medical genetics. Part A.Am J Med Genet A.2013 Apr;161A(4):860-4. doi: 10.1002/ajmg.a.35778. Epub 2013 Mar 12.
  • Mutations or deletions of ACSL4 (FACL4, OMIM 300157) are a rare cause of non-syndromic X-linked intellectual disability. We report on a 10-year-old male patient with moderate intellectual disability, sensorineural hearing loss, facial dysmorphism, pyloric stenosis, and intestinal obstruction in whom
  • PMID 23520119

関連リンク

Pathophysiology 1. Family of six seperate but related syndromes – common elliptocytosis, pyropoikilocytosis, spherocytic hereditary elliptocytosis, stomatocytic elliptocytosis (rare), and South Asian ovalocytosis (rare) 2. All are ...
Pathophysiology 1) family of six separate but related syndromes – common elliptocytosis, pyropoikilocytosis, spherocytic hereditary elliptocytosis, stomatocytic elliptocytosis (rare) and South Asian ovalocytosis (rare) 2) all are ...

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関連記事syndrome

syndrome」

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  • n.

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「a pattern of symptoms indicative of some disease」

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「a complex of concurrent things; "every word has a syndrome of meanings"」

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「(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態」




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