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A compound heterozygote case of isolated sulfite oxidase deficiency.

Molecular genetics and metabolism reports

Brumaru D, Guerin E, Voegeli AC, Eyer D, Maitre M.
PMID: 28725568
Mol Genet Metab Rep. 2017 Jul 06;12:99-102. doi: 10.1016/j.ymgmr.2017.06.009. eCollection 2017 Sep.

We report an isolated sulfite oxidase deficiency in the first child boy of a non-consanguineous Caucasian family. He's a compound heterozygote for the sulfite oxidase gene, presenting low cystine, undetectable homocysteine and normal uric acid blood concentrations and undetectable...

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Brumaru D, Guerin E, Voegeli AC, et al. A compound heterozygote case of isolated sulfite oxidase deficiency. Mol Genet Metab Rep. 2017;12:99-102doi: 10.1016/j.ymgmr.2017.06.009.
Brumaru, D., Guerin, E., Voegeli, A. C., Eyer, D., & Maitre, M. (2017). A compound heterozygote case of isolated sulfite oxidase deficiency. Molecular genetics and metabolism reports, 1299-102. https://doi.org/10.1016/j.ymgmr.2017.06.009
Brumaru, Daniel, et al. "A compound heterozygote case of isolated sulfite oxidase deficiency." Molecular genetics and metabolism reports vol. 12 (2017): 99-102. doi: https://doi.org/10.1016/j.ymgmr.2017.06.009
Brumaru D, Guerin E, Voegeli AC, Eyer D, Maitre M. A compound heterozygote case of isolated sulfite oxidase deficiency. Mol Genet Metab Rep. 2017 Jul 06;12:99-102. doi: 10.1016/j.ymgmr.2017.06.009. eCollection 2017 Sep. PMID: 28725568; PMCID: PMC5501915.
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Bypassing the nearest emergency department for a more distant neurosurgical centre in traumatic brain injury patients.

British journal of neurosurgery

Prosser CJ, Edwards D, Boumara O, Fuller G, Holliman D, Lecky F.
PMID: 33322927
Br J Neurosurg. 2020 Dec 16;1-7. doi: 10.1080/02688697.2020.1858026. Epub 2020 Dec 16.

BACKGROUND AND OBJECTIVE: Major trauma triage within regional trauma networks (RTN) select patients with suspected TBI for bypass to specialist neuroscience centres (SNC), expediting neurosurgical care but may delay resuscitation. This comparative effectiveness study assessed the impact of this...

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Prosser CJ, Edwards D, Boumara O, et al. Bypassing the nearest emergency department for a more distant neurosurgical centre in traumatic brain injury patients. Br J Neurosurg. 2020;1-7doi: 10.1080/02688697.2020.1858026.
Prosser, C. J., Edwards, D., Boumara, O., Fuller, G., Holliman, D., & Lecky, F. (2020). Bypassing the nearest emergency department for a more distant neurosurgical centre in traumatic brain injury patients. British journal of neurosurgery, 1-7. https://doi.org/10.1080/02688697.2020.1858026
Prosser, Callum J, et al. "Bypassing the nearest emergency department for a more distant neurosurgical centre in traumatic brain injury patients." British journal of neurosurgery vol. (2020): 1-7. doi: https://doi.org/10.1080/02688697.2020.1858026
Prosser CJ, Edwards D, Boumara O, Fuller G, Holliman D, Lecky F. Bypassing the nearest emergency department for a more distant neurosurgical centre in traumatic brain injury patients. Br J Neurosurg. 2020 Dec 16;1-7. doi: 10.1080/02688697.2020.1858026. Epub 2020 Dec 16. PMID: 33322927.
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