Results 111 to 120 of about 2,001,857 (129)
Hydrogen Sulfide Signaling in Neurodegenerative Movement Disorders. [PDF]
Handb Exp PharmacolPieper AA, Paul BD.
europepmc +1 more source
Early-Life Hydrogen Sulfide Signaling as a Target for Cardiovascular-Kidney-Metabolic Syndrome Reprogramming. [PDF]
Antioxidants (Basel)Hsu CN +4 more
europepmc +1 more source
A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency [PDF]
Journal of Inherited Metabolic Disease, 2022 Isolated sulfite oxidase deficiency (ISOD) is a rare recessive and infantile lethal metabolic disorder, which is caused by functional loss of sulfite oxidase (SO) due to mutations of the SUOX gene.
Hülya-Sevcan Daimagüler +2 more
exaly +2 more sources
Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis
Prenatal Diagnosis, 2002 Item does not contain fulltextIsolated sulfite oxidase deficiency is an autosomal recessive, neurological disorder resulting from a defect in SUOX, the gene encoding the enzyme that catalyzes the terminal reaction in the sulfur amino acid degradation ...
K V Rajagopalan +2 more
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Molecular Genetics and Metabolism, 2002 Isolated sulfite oxidase deficiency is a rare autosomal recessive disease, characterized by severe neurological abnormalities, seizures, mental retardation, and dislocation of the ocular lenses, that often leads to death in infancy.
Chi-Kong Li, Ching-Wan Lam, Sui-Fan Tong
exaly +2 more sources
Isolated Sulfite Oxidase Deficiency in the Newborn: Lactic Acidaemia and Leukoencephalopathy
Neuropediatrics, 2007 We report a newborn with progressive leukoencephalopathy and lactic acidaemia, diagnosed with isolated sulfite oxidase deficiency. We show that low plasma total homocysteine (PTHcy) is a valuable early indicator of sulfite oxidase dysfunction, providing ...
Juliette Hukin
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Clinical and imaging observations in isolated sulfite oxidase deficiency.
Journal of Child Neurology, 2011 Isolated sulfite oxidase deficiency is a rare neurometabolic disorder that closely mimics hypoxic ischemic encephalopathy both clinically and radiologically.
Parayil Sankaran Bindu +1 more
exaly +2 more sources
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies [PDF]
Journal of Inherited Metabolic DiseaseSulfite 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 of the apoenzyme sulfite oxidase. Delays on the diagnosis of these
Albert L Misko +2 more
exaly +2 more sources
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