Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2016 1
2017 1
2018 2
2019 2
2020 1
2022 1
2023 1
2024 3
2025 3
2026 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

12 results

Results by year

Filters applied: . Clear all
Page 1
The Acute Treatment of Methemoglobinemia in Pregnancy.
Grauman Neander N, Loner CA, Rotoli JM. Grauman Neander N, et al. J Emerg Med. 2018 May;54(5):685-689. doi: 10.1016/j.jemermed.2018.01.038. Epub 2018 Apr 5. J Emerg Med. 2018. PMID: 29627348
As an outpatient, the patient underwent genetic testing and was diagnosed with homozygous cytochrome b5 reductase deficiency as the etiology of the methemoglobinemia. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?...
As an outpatient, the patient underwent genetic testing and was diagnosed with homozygous cytochrome b5 reductase de …
Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.
Gupta V, Kulkarni A, Warang P, Devendra R, Chiddarwar A, Kedar P. Gupta V, et al. Hum Mutat. 2020 Apr;41(4):737-748. doi: 10.1002/humu.23973. Epub 2020 Jan 30. Hum Mutat. 2020. PMID: 31898843
NADH-cytochrome b5 reductase 3 deficiency is an important genetic cause of recessive congenital methemoglobinemia (RCM) and occurs worldwide in autosomal recessive inheritance. ...
NADH-cytochrome b5 reductase 3 deficiency is an important genetic cause of recessive congenital methemoglobinemia (RCM) …
Congenital Methemoglobinemia Identified by Pulse Oximetry Screening.
Ward J, Motwani J, Baker N, Nash M, Ewer AK, Toldi G. Ward J, et al. Pediatrics. 2019 Mar;143(3):e20182814. doi: 10.1542/peds.2018-2814. Epub 2019 Feb 7. Pediatrics. 2019. PMID: 30733239
Congenital methemoglobinemia is a rare condition caused by cytochrome b5 reductase deficiency, cytochrome b5 deficiency, or hemoglobin M disease. Newborn pulse oximetry screening was developed for the early detection of critical congenita …
Congenital methemoglobinemia is a rare condition caused by cytochrome b5 reductase deficiency, cytochrome …
Methaemoglobinemia in paediatrics: a complex diagnostic journey.
Aires Martins I, Carvalho Queirós J, Cleto E, Barbosa T. Aires Martins I, et al. BMJ Case Rep. 2024 Dec 22;17(12):e263218. doi: 10.1136/bcr-2024-263218. BMJ Case Rep. 2024. PMID: 39950665
A low SpO(2) level that did not improve with supplemental oxygen prompted further testing, leading to the diagnosis of methaemoglobinemia caused by cytochrome b5 reductase deficiency. The case highlights the complexities of diagnosing methaemoglobinemi …
A low SpO(2) level that did not improve with supplemental oxygen prompted further testing, leading to the diagnosis of methaemoglobinemia ca …
Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I.
Kedar PS, Gupta V, Warang P, Chiddarwar A, Madkaikar M. Kedar PS, et al. Hematology. 2018 Sep;23(8):567-573. doi: 10.1080/10245332.2018.1444920. Epub 2018 Feb 27. Hematology. 2018. PMID: 29482478 Free article.
OBJECTIVE: To investigate the cause of recessive congenital methemoglobinemia (RCM) in Indian families and to identify molecular defect associated with RCM. ...
OBJECTIVE: To investigate the cause of recessive congenital methemoglobinemia (RCM) in Indian families and to identify …
Molecular Dynamic Simulation Analysis of a Novel Missense Variant in CYB5R3 Gene in Patients with Methemoglobinemia.
Ullah A, Shah AA, Syed F, Mahmood A, Ur Rehman H, Khurshid B, Samad A, Ahmad W, Basit S. Ullah A, et al. Medicina (Kaunas). 2023 Feb 16;59(2):379. doi: 10.3390/medicina59020379. Medicina (Kaunas). 2023. PMID: 36837579 Free PMC article.
Background and Objective: Mutations in the CYB5R3 gene cause reduced NADH-dependent cytochrome b5 reductase enzyme function and consequently lead to recessive congenital methemoglobinemia (RCM). RCM exists as RCM type I (RCM1) and RCM type II (RCM2). ...
Background and Objective: Mutations in the CYB5R3 gene cause reduced NADH-dependent cytochrome b5 reductase enzyme function and consequently …
Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene.
Nicolas-Jilwan M. Nicolas-Jilwan M. Neuroradiol J. 2019 Apr;32(2):143-147. doi: 10.1177/1971400918822153. Epub 2019 Jan 7. Neuroradiol J. 2019. PMID: 30614390 Free PMC article.
Recessive congenital methemoglobinemia type II is a very rare autosomal recessive hematologic disorder due to NADH-cytochrome b5 reductase deficiency, usually caused by full-stop mutations or deletions. ...The novel missense …
Recessive congenital methemoglobinemia type II is a very rare autosomal recessive hematologic disorder due to NADH …
CYB5R3 homozygous pathogenic variant as a rare cause of cyanosis in the newborn.
Molina Herranz D, García Escudero C, Rite Gracia S, Aguilar de la Red Y, Martínez Nieto J, Izquierdo Álvarez S, Montañés Gracia MA, Recasens V, Hernández Mata CF. Molina Herranz D, et al. Clin Biochem. 2022 Apr;102:67-70. doi: 10.1016/j.clinbiochem.2022.01.008. Epub 2022 Jan 31. Clin Biochem. 2022. PMID: 35104462
Detailed below is a very illustrative case of a rare pathology of recessive congenital methemoglobinemia. The patient, a newborn female, was homozygous for c.535G > A, p....
Detailed below is a very illustrative case of a rare pathology of recessive congenital methemoglobinemia. The patient, …
Hemoglobin Disorders Associated with Neurological Impairment: First Report of ATR-X Syndrome and Recessive Congenital Methemoglobinemia Type II in Tunisia.
Ouragini H, Bouatrous E, Kasdallah M, Nouira S, Dallali H, Rekaya S, Chaouachi D, Ouederni M, Menif S. Ouragini H, et al. Int J Mol Sci. 2025 May 16;26(10):4803. doi: 10.3390/ijms26104803. Int J Mol Sci. 2025. PMID: 40429944 Free PMC article.
Clinical and hematological findings suggested X-linked alpha-thalassemia/impaired intellectual development syndrome in the first family and recessive congenital methemoglobinemia type II in the second. This was confirmed by the identification of pathogenic mu …
Clinical and hematological findings suggested X-linked alpha-thalassemia/impaired intellectual development syndrome in the first family and …
12 results