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Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype–phenotype correlation
BackgroundIsolated sulfite oxidase deficiency (ISOD) caused by sulfite oxidase gene ( SUOX ) mutations is a rare neurometabolic disease associated...
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Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review
BackgroundIsolated sulfite oxidase deficiency (ISOD) is an autosomal recessive disorder caused by a deficiency of sulfite oxidase, which is encoded...
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Sulfite concentration and the occurrence of headache in young adults: a prospective study
Background/ObjectivesSulfites are additives commonly used in food and wine industries that are associated to adverse clinical effects such as...
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Design of mobile and website health application devices for drug tolerability in hereditary fructose intolerance
BackgroundHereditary fructose intolerance (HFI) is a rare metabolic disease caused by aldolase B deficiency. The aim of our study was to analyse...
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Clostridium perfringens in central Colombia: frequency, toxin genes, and risk factors
Clostridium perfringens is an opportunistic bacterium that causes intestinal diseases in both humans and animals . This study aimed to assess the...
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High sulfite oxidase expression could predict postoperative biochemical recurrence in patients with prostate cancer
Sulfite oxidase (SUOX) is a metalloenzyme that plays a role in ATP synthesis via oxidative phosphorylation in mitochondria and has been reported to...
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Diagnostic value of SHOX2, RASSF1A gene methylation combined with CEA level detection in malignant pleural effusion
AimTo investigate the diagnostic value of combined detection of SHOX2 and RASSF1A gene methylation with carcinoembryonic antigen (CEA) level in...
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Isolated sulfite oxidase deficiency
Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe neurological impairment. As no...
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Isolated ectopia lentis with partial anterior dislocation and pupillary block: a case report
BackgroundEctopia lentis is the dislocation of the natural crystalline lens and usually presents in the setting of trauma or other systemic diseases....
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Sulfide regulation of cardiovascular function in health and disease
Hydrogen sulfide (H 2 S) has emerged as a gaseous signalling molecule with crucial implications for cardiovascular health. H 2 S is involved in many...
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The impact of gut microbiota metabolites on cellular bioenergetics and cardiometabolic health
Recent research demonstrates a reciprocal relationship between gut microbiota-derived metabolites and the host in controlling the energy homeostasis...
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Potential of montmorillonite modified by an organosulfur surfactant for reducing aflatoxin B1 toxicity and ruminal methanogenesis in vitro
BackgroundMontmorillonite clay modified by organosulfur surfactants possesses high cation exchange capacity (CEC) and adsorption capacity than their...
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Expression of long noncoding RNAs in the ovarian granulosa cells of women with diminished ovarian reserve using high-throughput sequencing
BackgroundInfertility is a global reproductive-health problem, and diminished ovarian reserve (DOR) is one of the common causes of female...
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Declaration: Novel SLC3A1 mutation in a cystinuria patient with xanthine stones: a case report
BackgroundCystinuria and xanthinuria are both rare genetic diseases involving urinary calculi. However, cases combining these two disorders have not...
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Mechanistic insights into the treatment of iron-deficiency anemia and arthritis in humans with dietary molybdenum
In the last few decades, there has been a resurgence in interest in the use of dietary supplements to treat diseases in humans and molybdenum has the...
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Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B
Molybdenum cofactor is essential for the activity of multiple enzymes including xanthine dehydrogenase. Molybdenum cofactor deficiencies are rare...
