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Items: 4

1.
Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene
Manal Nicolas-Jilwan
Neuroradiol J. 2019 Apr; 32(2): 143–147. Published online 2019 Jan 7. doi: 10.1177/1971400918822153
PMCID:
PMC6410459
AbstractArticle
2.
Congenital methemoglobinemia type II in a 5‐year‐old boy
Elizabeth A. Mannino, Thomas Pluim, Jacob Wessler, Megan T. Cho, Jane Juusola, Samantha A. Schrier Vergano
Clin Case Rep. 2018 Jan; 6(1): 170–178. Published online 2017 Dec 7. doi: 10.1002/ccr3.1310
PMCID:
PMC5771927
AbstractArticlePDF–747K
3.
A novel nine base deletion mutation in NADH-cytochrome b5 reductase gene in an Indian family with recessive congenital methemoglobinemia-type-II
Prashant Warang, Prabhakar Kedar, S. Sivanandam, K. Jothilakshmi, R. Sumathi, Roshan Colah
Mol Genet Metab Rep. 2015 Dec; 5: 44–47. Published online 2015 Oct 22. doi: 10.1016/j.ymgmr.2015.10.002
PMCID:
PMC5471390
AbstractArticlePDF–585K
4.
Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II
Francesco Nicita, Letizia Sabatini, Viola Alesi, Giulia Lucignani, Ester Sallicandro, Antonella Sferra, Enrico Bertini, Ginevra Zanni, Giuseppe Palumbo
Brain Sci. 2022 Feb; 12(2): 182. Published online 2022 Jan 29. doi: 10.3390/brainsci12020182
PMCID:
PMC8870218
AbstractArticlePDF–1.1M

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