Results 41 to 50 of about 766 (123)
First case of hereditary xanthinuria in a Moroccan family
PAMJ Clinical Medicine, 2019 The xanthinuria is a rare hereditary autosomal recessive disease. It is related to xanthine oxidase deficiency also known as xanthine dehydrogenase, an enzyme involved in the metabolism of purine bases.
Aicha Ezoubeiri +4 more
doaj +1 more source
Discriminating Susceptibility of Xanthine Oxidoreductase Family to Metals
Microbiology Spectrum, 2023 The xanthine oxidoreductase (XOR) family are metal-containing enzymes that use the molybdenum cofactor (Moco), 2Fe-2S clusters, and flavin adenine dinucleotide (FAD) for their catalytic activity.
Anne-Soisig Steunou +7 more
doaj +1 more source
Veterinary Dermatology, Volume 36, Issue 6, Page 723-787, December 2025.Hyperkeratosis of (a) the footpads and (b) the nasal planum. ABSTRACT Background Canine leishmaniosis (CanL) due to Leishmania infantum remains common, and veterinarians do not always follow scientifically sound approaches for diagnosis, treatment and prevention. Objectives To provide consensus guidelines for diagnosis and evidence‐based guidelines for
Manolis N. Saridomichelakis +9 more
wiley +1 more source
Classical xanthinuria: a rare cause of pediatric urolithiasis
Urology Research and Practice, 2019 Xanthine dehydrogenase catalyzes the oxidation of hypoxanthine to xanthine and xanthine to uric acid in the final two steps of purine degradation.
Nurver Akıncı +2 more
doaj +1 more source
Xanthinuria: a rare cause of urolithiasis in the cat [PDF]
, 2012 Xanthinuria is a very rare disease in cats. Its etiology may have a genetic origin or may be due to an iatrogenic xanthine-dehydrogenase inhibition that finally results in urolithiasis.
CLAUDIA IVETH MENDOZA LOPEZ +3 more
core +2 more sources
Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review
Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio +7 more
wiley +1 more source
A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation.
PLoS ONE, 2012 Chronic kidney disease (CKD) is characterized by renal fibrosis that can lead to end-stage renal failure, and studies have supported a strong genetic influence on the risk of developing CKD.
Sian E Piret +11 more
doaj +1 more source
A case report of MoCD etiology in a neonate: A novel homozygous MoCS2 variant
Clinical Case Reports, Volume 12, Issue 7, July 2024.Key Clinical Message Molybdenum cofactor deficiency is a rare and fatal genetic disorder. Due to recurrence in the family, the etiological diagnosis could have impacted family planning and alertness to future offspring. Abstract Molybdenum cofactor deficiency (MoCD) is a rare and fatal genetic disorder that impairs molybdenum‐dependent enzymes ...
Jamal Sayed +4 more
wiley +1 more source
Research Communications of the 31st ECVIM‐CA Online Congress
, 2021 Journal of Veterinary Internal Medicine, Volume 35, Issue 6, Page 3080-3204, November/December 2021.
wiley +1 more source