Article

Novel, postnatal manifestation of an epidermal barrier defect in a mouse model of isolated sulfite oxidase deficiency

2024-03-19

Abstract excerpt

Sulfite oxidase deficiency is a rare inborn error in metabolism leading to early childhood death due to rapidly progressing neurodegeneration. A new mouse model of sulfite oxidase deficiency carrying a homozygous deletion in the Suox gene resembles the human pathology in terms of neonatal death and elevation of sulfite and thiosulfate in plasma and urine, respectively. Homozygous Suox -/- mice are initially born...

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Literature Corpus work: 5a24b6ed-be89-5f4d-aa0b-8f9b160d80e6
DOI: 10.1101/2024.03.14.584870

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