Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies

BC Schwahn, F van Spronsen, A Misko… - Journal of Inherited …, 2024 - Wiley Online Library
Sulfite intoxication is the hallmark of four ultrarare disorders that are caused by impaired
sulfite oxidase activity due to genetic defects in the synthesis of the molybdenum cofactor or …