2024
Opportunities in Primary and Enteric Hyperoxaluria at the Cross-Roads Between the Clinic and Laboratory
Cellini B, Baum M, Frishberg Y, Groothoff J, Harris P, Hulton S, Knauf F, Knight J, Lieske J, Lowther W, Moochhala S, Nazzal L, Tasian G, Whittamore J, Sas D. Opportunities in Primary and Enteric Hyperoxaluria at the Cross-Roads Between the Clinic and Laboratory. Kidney International Reports 2024, 9: 3083-3096. PMID: 39534212, PMCID: PMC11551133, DOI: 10.1016/j.ekir.2024.08.031.Peer-Reviewed Original Research
2020
Stiripentol fails to lower plasma oxalate in a dialysis-dependent PH1 patient
Kempf C, Pfau A, Holle J, Müller-Schlüter K, Bufler P, Knauf F, Müller D. Stiripentol fails to lower plasma oxalate in a dialysis-dependent PH1 patient. Pediatric Nephrology 2020, 35: 1787-1789. PMID: 32418144, PMCID: PMC7385015, DOI: 10.1007/s00467-020-04585-5.Peer-Reviewed Original ResearchConceptsEnd-stage renal diseaseChronic kidney diseaseLactate dehydrogenase 5Urinary oxalateAdvanced chronic kidney diseaseAnti-convulsive drugsMultisystemic metabolic disorderLiver-kidney transplantationMajority of patientsCurrent standard treatmentTreatment of childrenHyperoxaluria type 1Anuric infantsPH patientsUox excretionRenal diseaseDravet syndromeKidney diseasePrimary hyperoxaluriaCompassionate useStandard treatmentPlasma concentrationsMetabolic disordersPromising drugEarly infancy