Results 101 to 110 of about 2,001,857 (129)

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature. [PDF]

Epileptic Disord
Kapoor D, Sharma S, Kaminska A, Nabbout R, Chemaly N, Schiff M, De Lonlay P, Eisermann M.   +7 more
europepmc   +1 more source

Molybdenum's Role as an Essential Element in Enzymes Catabolizing Redox Reactions: A Review. [PDF]

Biomolecules
Adamus JP, Ruszczyńska A, Wyczałkowska-Tomasik A.   +2 more
europepmc   +1 more source

Homeostasis of Molybdenum, Xanthine Oxidase and Aldehyde Oxidase Activity Levels in the Livers of Patients with End-Stage Liver Failure and Healthy Controls. [PDF]

Int J Mol Sci
Adamus JP, Wyczałkowska-Tomasik A, Ruszczyńska A, Bulska E, Ząbek Z, Pastwa K, Sołdacki D, Pączek L.   +7 more
europepmc   +1 more source

Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review. [PDF]

BMC Med Genomics
Kinsinger M, Ivanisevic J, Mithal DS.
europepmc   +1 more source

XDH-1 inactivation causes xanthine stone formation in Caenorhabditis elegans which is inhibited by SULP-4-mediated anion exchange in the excretory cell. [PDF]

PLoS Biol
Snoozy J, Bhattacharya S, Johnson B, Fettig RR, Van Asma A, Brede C, Miller SG, Ralle M, Warnhoff K.   +8 more
europepmc   +1 more source

Emerging roles of hydrogen sulfide-metabolizing enzymes in cancer. [PDF]

Redox Rep
Dawoud A, Youness RA, Elsayed K, Nafae H, Allam H, Saad HA, Bourquin C, Szabo C, Abdel-Kader R, Gad MZ.   +9 more
europepmc   +1 more source

Genetic Insights into Persistent Hypouricemia in Adults: Novel Findings from an Adult Nephrogenetic Clinic. [PDF]

Kidney Dis (Basel)
Dirim AB, Suer I, Kalaycı T, Tahillioglu Y, Safak S, Ucar AR, Mirioglu S, Artan AS, Oto OA, Altınkaynak M, Ozturk S, Senturk L, Turkmen A, Yildiz A, Cefle K, Yazici H, Ozturk S.   +16 more
europepmc   +1 more source