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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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Mol Genet Metab Rep. 2017 Jul 06;12:99-102. doi: 10.1016/j.ymgmr.2017.06.009. eCollection 2017 Sep.

A compound heterozygote case of isolated sulfite oxidase deficiency.

Molecular genetics and metabolism reports

Daniel Brumaru, Eric Guerin, Anne-Claire Voegeli, Didier Eyer, Michel Maitre

Affiliations

  1. Hôpitaux Universitaires de Strasbourg, Laboratoire de Biochimie et Biologie Moléculaire, 67000 Strasbourg, France.
  2. Hôpitaux Universitaires de Strasbourg, Service de Pédiatrie 3, 67000 Strasbourg, France.

PMID: 28725568 PMCID: PMC5501915 DOI: 10.1016/j.ymgmr.2017.06.009

Abstract

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 sulfite oxidase activity in his cultured fibroblasts. Both mutations are not reported yet. The clinical presentation was typical and severe, with generalized status epilepticus and premature death.

Keywords: Compound heterozygote; Fibroblasts; Missense mutation; Point mutation; SUOX, sulfite oxidase; Sulfite oxidase activity; Transition; Transversion

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