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Adenosine deaminase deficiency: a review

Adenosine deaminase (ADA) deficiency leads to an accumulation of toxic purine degradation by-products, most potently affecting lymphocytes, leading to adenosine deaminase-deficient severe combined immunodeficiency. Whilst most notable affects are on lymphocytes, other manifestations include skeletal...

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Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: Flinn, Aisling M., Gennery, Andrew R.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5916829/
https://ncbi.nlm.nih.gov/pubmed/29690908
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0807-5
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