Autosomal Dominant Hemolytic Anemia and Adenosine Deaminase Overproduction

Autor:	David Ginsburg, Beverly S. Mitchell, E G Chottiner
Rok vydání:	1989
Předmět:	chemistry.chemical_classification Proband Hemolytic anemia biology hemic and immune systems Skin fibroblast Granulocyte medicine.disease Molecular biology Adenosine deaminase overproduction Enzyme medicine.anatomical_structure Adenosine deaminase chemistry medicine biology.protein Normal range
Zdroj:	Advances in Experimental Medicine and Biology ISBN: 9781468456752
DOI:	10.1007/978-1-4684-5673-8_80
Popis:	Paglia et al have described a kindred with an autosomal dominant hemolytic anemia characterized by a 70- to 100-fold elevation in erythrocyte adenosine deaminase (ADA) activity and decreased ATP pools (1, 2). The disorder appears to be limited to red blood cells (RBC), as B lymphoblast, granulocyte, and skin fibroblast ADA activities fall within the normal range. Kinetic and physicochemical properties of ADA partially purified from proband RBC are normal, suggesting that the enzyme contains no structural abnormalities (3).
Databáze:	OpenAIRE
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