Pyridoxine-responsive sideroblastic anemia

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

Topic mentions per year

Topic mentions per year

1976-2004
01219762004

Papers overview

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Review
2004
Review
2004
HISTORY A 30-year-old patient was admitted for investigation of microcytotic, hypochromic anemia (hemoglobin 8.3 g/dl) with… (More)
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1999
1999
A novel missense mutation, G663A, in exon 5 of the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) was identified… (More)
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1994
1994
BACKGROUND X-linked sideroblastic anemia is usually associated with reduced 5-aminolevulinate synthase activity in erythroid… (More)
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1994
1994
 
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1992
1992
We have identified a compound dinucleotide repeat within intron 7 of the human erythroid 5-aminolevulinate synthase (ALAS2) gene… (More)
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1992
1992
To examine the role of 5-aminolevulinate synthase (ALAS) in the pathogenesis of sideroblastic anemias, levels of mRNAs for… (More)
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1991
1991
We treated and followed up for 6 years a patient with pyridoxine-responsive sideroblastic anemia. The patient was a boy age 1… (More)
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