Filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 10/31/2025

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 43 publications

A novel stoploss mutation CYB5R3 c.906A>G(p.*302Trpext*42) involved in the pathogenesis of hereditary methemoglobinemia.

A novel stoploss mutation CYB5R3 c.906A>G(p.*302Trpext*42) involved in the pathogenesis of hereditary methemoglobinemia.

Journal: Clinica chimica acta; international journal of clinical chemistry
Published: July 02, 2024

Novel Compound Heterogeneous Mutations in CYB5R3 Gene Leading to Methemoglobinemia (Type I) in a Chinese Boy: Case Report and Relevant Comprehensive Analysis.

Novel Compound Heterogeneous Mutations in CYB5R3 Gene Leading to Methemoglobinemia (Type I) in a Chinese Boy: Case Report and Relevant Comprehensive Analysis.

Journal: Acta haematologica
Published: December 28, 2023

Congenital Methemoglobinemia: First Confirmed Case in the Arab Population with a Novel Variant in the CYB5R Gene in the State of Qatar: A Case Report.

Congenital Methemoglobinemia: First Confirmed Case in the Arab Population with a Novel Variant in the CYB5R Gene in the State of Qatar: A Case Report.

Journal: Journal of blood medicine
Published: November 02, 2022

Recommendations for diagnosis and treatment of methemoglobinemia.

Recommendations for diagnosis and treatment of methemoglobinemia.

Journal: American journal of hematology
Published: July 16, 2021

Recommendations for diagnosis and treatment of methemoglobinemia.

Recommendations for diagnosis and treatment of methemoglobinemia.

Journal: American journal of hematology
Published: July 16, 2021

Oral Methylene Blue Treatment in A Dog with Cytochrome B5 Reductase Deficiency And 78, XX Testicular Disorder of Sex Development.

Oral Methylene Blue Treatment in A Dog with Cytochrome B5 Reductase Deficiency And 78, XX Testicular Disorder of Sex Development.

Journal: Topics in companion animal medicine
Published: June 08, 2021

Characterization of a novel nicotinamide adenine dinucleotide-cytochrome b5 reductase mutation associated with canine hereditary methemoglobinemia.

Characterization of a novel nicotinamide adenine dinucleotide-cytochrome b5 reductase mutation associated with canine hereditary methemoglobinemia.

Journal: The Journal of veterinary medical science
Published: December 21, 2020

Hemolysis and methemoglobinemia in a child with left ventricular assist Levitronix PediMag.

Hemolysis and methemoglobinemia in a child with left ventricular assist Levitronix PediMag.

Journal: The International journal of artificial organs
Published: June 20, 2020

Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.

Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.

Journal: Human mutation
Published: May 15, 2019

Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene.

Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene.

Journal: The neuroradiology journal
Published: January 08, 2019

An Updated View on the Molecular Pathomechanisms of Human Dihydrolipoamide Dehydrogenase Deficiency in Light of Novel Crystallographic Evidence.

An Updated View on the Molecular Pathomechanisms of Human Dihydrolipoamide Dehydrogenase Deficiency in Light of Novel Crystallographic Evidence.

Journal: Neurochemical research
Published: December 02, 2018

Congenital methaemoglobinaemia in a 61-year-old patient with normal haemoglobin levels.

Congenital methaemoglobinaemia in a 61-year-old patient with normal haemoglobin levels.

Journal: The Netherlands journal of medicine
Published: May 31, 2018
Showing 1-12 of 43

Last Updated: 10/31/2025