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Pyridoxine-responsive sideroblastic anemia

A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment. [HPO:probinson]
National Institutes of Health

Papers overview

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1999
1999
A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia.
A novel missense mutation, G663A, in exon 5 of the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) was identified… Expand
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1994
1994
X-linked, pyridoxine-responsive sideroblastic anemia.
  • Joe W. Harris
  • The New England journal of medicine
  • 1994
    • Corpus ID: 3064501
In a normal adult, 2 × 1011 worn-out red cells die every day. In replacing them with an equal number of fresh erythrocytes, the… Expand
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1994
1994
X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase.
BACKGROUND X-linked sideroblastic anemia is usually associated with reduced 5-aminolevulinate synthase activity in erythroid… Expand
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1992
1992
Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia.
We have identified a compound dinucleotide repeat within intron 7 of the human erythroid 5-aminolevulinate synthase (ALAS2) gene… Expand
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1976
1976
Effect of pyridoxine plus chronic phlebotomy on the function and morphology of bone marrow and liver in pyridoxine-responsive sideroblastic anemia.
 
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1976
1976
Effect of pyridoxine plus chronic phlebotomy on the function and morphology of bone marrow and liver in pyridoxine-responsive sideroblastic anemia.
 
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