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Year | Number of Results |
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1986 | 1 |
2008 | 1 |
2016 | 1 |
2024 | 0 |
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NADH-cytochrome b5 reductase in a Turkish family with recessive congenital methaemoglobinaemia type I.
J Clin Pathol. 2008 Oct;61(10):1122-3. doi: 10.1136/jcp.2008.058701.
J Clin Pathol. 2008.
PMID: 18820099
There are three distinct origins of methaemoglobinaemia; the presence of a haemoglobin variant, environmental toxicity and deficiency of cytochrome b5 reductase (cb(5)r). Two children born to two sets of first-degree related parents were cyanoti …
There are three distinct origins of methaemoglobinaemia; the presence of a haemoglobin variant, environmental toxicity and deficiency …
Congenital methemoglobinaemia due to Hb F-M-Fort Ripley in a preterm newborn.
Ghotra S, Jangaard K, Pambrun C, Fernandez CV.
Ghotra S, et al.
BMJ Case Rep. 2016 Mar 11;2016:bcr2016214381. doi: 10.1136/bcr-2016-214381.
BMJ Case Rep. 2016.
PMID: 26969357
Free PMC article.
Methemoglobinaemia is a rare cause of cyanosis in newborns. Congenital methemoglobinaemias due to M haemoglobin or deficiency of cytochrome b5 reductase are even rarer. We present a case of congenital methemoglobinaemia presenting at birth in a …
Methemoglobinaemia is a rare cause of cyanosis in newborns. Congenital methemoglobinaemias due to M haemoglobin or deficiency of …
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Prenatal diagnosis of congenital methemoglobinemia with mental retardation.
Kaftory A, Freundlich E, Manaster J, Shukri A, Hegesh E.
Kaftory A, et al.
Isr J Med Sci. 1986 Nov;22(11):837-40.
Isr J Med Sci. 1986.
PMID: 3793441
A case of congenital enzymopenic methemoglobinemia associated with severe mental retardation is described. The deficiency of cytochrome b5 reductase activity in the erythrocytes and the leukocytes of the propositus is demonstrated by kinetic mea …
A case of congenital enzymopenic methemoglobinemia associated with severe mental retardation is described. The deficiency of …
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