Literature DB >> 3487928

Adenosine deaminase deficiency and chondro-osseous dysplasia.

R L Wortmann, J A Veum, H S Cheung.   

Abstract

An in vitro model of ADA deficiency is selectively toxic to cartilage from immature rabbits with a greater effect on growth plate than articular cartilage. The selective toxicity observed appears to be the consequence of ATP depletion. These results support the hypothesis that the chondro-osseous dysplasia observed in patients with ADA deficiency is caused by the disordered metabolism that results from the enzyme deficiency.

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Year:  1986        PMID: 3487928     DOI: 10.1007/978-1-4684-5104-7_13

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN: 0065-2598            Impact factor:   2.622


  1 in total

1.  Characteristic scapular and rib changes on chest radiographs of children with ADA-deficiency SCIDS in the first year of life.

Authors:  David Manson; Lauren Diamond; Kamaldine Oudjhane; Faisal Bin Hussain; Chaim Roifman; Eyal Grunebaum
Journal:  Pediatr Radiol       Date:  2012-11-24
  1 in total

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