Familial renal glucosuria: a clinicogenetic study of 23 additional cases
Lee H, Han K, Park H, Shin J, Kim C, Namgung M, Kim K, Koo J, Chung W, Lee D, Kim S, Cheong H. Familial renal glucosuria: a clinicogenetic study of 23 additional cases. Pediatric Nephrology 2012, 27: 1091-1095. PMID: 22314875, DOI: 10.1007/s00467-012-2109-9.Peer-Reviewed Original ResearchConceptsHeterozygous mutationsInherited renal tubular disorderRenal tubular disorderCompound heterozygous mutationsUrinary glucose excretionGenotype-phenotype correlationAbsence of hyperglycemiaSLC5A2 mutationsSLC5A2 geneTubular disordersMulticenter studyRenal glucosuriaGlucose excretionMethodsMutation analysisNovel mutationsPediatric nephrologyPatientsMutated alleleIncomplete penetranceCoding genesAllelic heterogeneityKorean childrenSLC5A2ConclusionsThese findingsPhenotypic analysis
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply