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Congenital Methemoglobinemia
Known as:
hemoglobin m disease
, hereditary methemoglobinemia
Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence…
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National Institutes of Health
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Related topics
Related topics
6 relations
Anemia
Congenital Hematological Disorder
Hematopoietic and Lymphoid Cell
Hematopoietic and Lymphoid Tissue
Broader (2)
Hemoglobinopathies
Methemoglobinemia
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Congenital Methemoglobinemia Type II—Clinical Improvement with Short‐Term Methylene Blue Treatment
M. Cooper
,
M. Randall
,
Margaret Rowell
,
M. Charlton
,
A. Greenway
,
C. Barnes
Pediatric Blood & Cancer
2016
Corpus ID: 9342068
We report a case of prophylactic management with methylene blue (MB) in an almost 4‐year‐old male with congenital…
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Highly Cited
1995
Highly Cited
1995
A novel point mutation in a 3' splice site of the NADH-cytochrome b5 reductase gene results in immunologically undetectable enzyme and impaired NADH-dependent ascorbate regeneration in cultured…
K. Shirabe
,
M. Landi
,
M. Takeshita
,
Graziella Uziel
,
Ermellina Fedrizzi
,
Nica Borgese
American Journal of Human Genetics
1995
Corpus ID: 20558041
Hereditary methemoglobinemia with generalized deficiency of NADH-cytochrome b5 reductase (b5R) (type II) is a rare disease…
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1993
1993
Analysis of mutant NADH-cytochrome b5 reductase: apparent "type III" methemoglobinemia can be explained as type I with an unstable reductase.
T. Nagai
,
K. Shirabe
,
T. Yubisui
,
M. Takeshita
Blood
1993
Corpus ID: 18263808
A patient in Kurobe, Japan, was previously reported to have a new class of hereditary methemoglobinemia, type III. In this…
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1992
1992
Environmentally-induced methemoglobinemia in an infant.
Dean Bs
,
Gaylord P. Lopez
,
Krenzelok Ep
Journal of Toxicology Clinical Toxicology
1992
Corpus ID: 39508792
Acquired methemoglobinemia results from the exposure to various chemicals and drugs able to oxidize hemoglobin at a rate…
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1977
1977
Soluble and microsomal forms of NADH-cytochrome beta 5 reductase from human placenta. Similarity with NADH-methemoglobin reductase from human erythrocytes.
A. Leroux
,
L. Torliński
,
J. Kaplan
Biochimica et Biophysica Acta
1977
Corpus ID: 1864771
1971
1971
DPNH-methemoglobin reductase deficiency and hereditary methemoglobinemia.
Jaffé Er
,
Hsieh Hs
1971
Corpus ID: 53863385
1969
1969
Heterogeneity of the enzymatic defect in congenital methemoglobinemia.
G. Bloom
,
H. Zarkowsky
New England Journal of Medicine
1969
Corpus ID: 41760370
Abstract Investigation of the electrophoretic characteristics of NADH methemoglobin reductase in five unrelated families with a…
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1966
1966
Red-cell "pseudomosaicism" in congenital methemoglobinemia.
A. S. Keitt
,
T. Smith
,
J. H. Jandl
New England Journal of Medicine
1966
Corpus ID: 41134544
THE several rare familial disorders constituting the "congenital methemoglobinemias" arise from either of two kinds of inborn…
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1962
1962
Investigation of the defect in a variant of hereditary methemoglobinemia.
P. L. Townes
,
M. Morrison
Blood
1962
Corpus ID: 12702212
1. Further evidence has been presented to confirm the fact that the methemoglobin found in a new variant of hereditary…
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1952
1952
Laboratory and clinical studies in congenital methemoglobinemia.
H. Waisman
,
J. Bain
,
J. Richmond
,
F. Munsey
Pediatrics
1952
Corpus ID: 38495376
Congenital idiopathic methemoglobinemia in a 12 year old boy was corrected by the administration of either ascorbic acid or…
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