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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
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1999
1999
A novel mutation of the erythroid‐specific δ‐aminolevulinate synthase gene in a patient with non‐inherited pyridoxine‐responsive sideroblastic anemia
H. Harigae
,
K. Furuyama
,
+4 authors
Takeshi Sasaki
American journal of hematology/oncology
1999
Corpus ID: 36856944
A novel missense mutation, G663A, in exon 5 of the erythroid‐specific δ‐aminolevulinate synthase gene (ALAS2) was identified in a…
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Highly Cited
1994
Highly Cited
1994
X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase.
T. Cox
,
S. Bottomley
,
J. Wiley
,
M. Bawden
,
C. S. Matthews
,
B. May
New England Journal of Medicine
1994
Corpus ID: 38856814
BACKGROUND X-linked sideroblastic anemia is usually associated with reduced 5-aminolevulinate synthase activity in erythroid…
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1994
1994
X-linked, pyridoxine-responsive sideroblastic anemia.
J. Harris
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…
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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.
T. Cox
,
H. Kozman
,
W. Raskind
,
B. May
,
J. Mulley
Human Molecular Genetics
1992
Corpus ID: 1829774
We have identified a compound dinucleotide repeat within intron 7 of the human erythroid 5-aminolevulinate synthase (ALAS2) gene…
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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.
Hines Jd
1976
Corpus ID: 77722488
1976
1976
Effect of pyridoxine plus chronic phlebotomy on the function and morphology of bone marrow and liver in pyridoxine-responsive sideroblastic anemia.
J. Hines
Seminars in hematology (Print)
1976
Corpus ID: 46590011
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