| http://purl.uniprot.org/citations/28117207 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28117207 | http://www.w3.org/2000/01/rdf-schema#comment | "The phenotypic combination of steroid-resistant focal segmental glomerulosclerosis (SR-FSGS) and sensorineural hearing loss has been mainly reported in patients with mitochondrial cytopathies, including primary coenzyme Q10 (CoQ10) deficiency. In this report of 10 children with SR-FSGS and sensorineural hearing loss, we found 6 patients with biallelic COQ6 mutations. Median age at the onset of nephrotic syndrome was 29 (range, 15-47) months. All patients progressed to end-stage renal disease within a median of 13 (range, 1-27) months after the onset. Kidney biopsy revealed abnormal mitochondrial proliferation in podocytes in all 6 patients. None of the 5 patients who underwent kidney transplantation developed recurrence of FSGS. Primary CoQ10 deficiency due to COQ6 mutations should be considered in children presenting with both SR-FSGS and sensorineural hearing loss. An early diagnosis of COQ6 mutations is essential because the condition is treatable when CoQ10 supplementation is started at the early stage. We recommend early kidney biopsy because detection of abnormal mitochondrial proliferation in podocytes might provide an earlier diagnostic clue."xsd:string |
| http://purl.uniprot.org/citations/28117207 | http://purl.org/dc/terms/identifier | "doi:10.1053/j.ajkd.2016.10.040"xsd:string |
| http://purl.uniprot.org/citations/28117207 | http://purl.uniprot.org/core/author | "Lee K.B."xsd:string |
| http://purl.uniprot.org/citations/28117207 | http://purl.uniprot.org/core/author | "Park E."xsd:string |
| http://purl.uniprot.org/citations/28117207 | http://purl.uniprot.org/core/author | "Cheong H.I."xsd:string |
| http://purl.uniprot.org/citations/28117207 | http://purl.uniprot.org/core/author | "Moon K.C."xsd:string |
| http://purl.uniprot.org/citations/28117207 | http://purl.uniprot.org/core/author | "Park S.S."xsd:string |
| http://purl.uniprot.org/citations/28117207 | http://purl.uniprot.org/core/author | "Ahn Y.H."xsd:string |
| http://purl.uniprot.org/citations/28117207 | http://purl.uniprot.org/core/author | "Won N.H."xsd:string |
| http://purl.uniprot.org/citations/28117207 | http://purl.uniprot.org/core/author | "Kang H.G."xsd:string |
| http://purl.uniprot.org/citations/28117207 | http://purl.uniprot.org/core/author | "Seong M.W."xsd:string |
| http://purl.uniprot.org/citations/28117207 | http://purl.uniprot.org/core/author | "Yoo K.H."xsd:string |
| http://purl.uniprot.org/citations/28117207 | http://purl.uniprot.org/core/author | "Gwon T.R."xsd:string |
| http://purl.uniprot.org/citations/28117207 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
| http://purl.uniprot.org/citations/28117207 | http://purl.uniprot.org/core/name | "Am J Kidney Dis"xsd:string |
| http://purl.uniprot.org/citations/28117207 | http://purl.uniprot.org/core/pages | "139-144"xsd:string |
| http://purl.uniprot.org/citations/28117207 | http://purl.uniprot.org/core/title | "COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss."xsd:string |
| http://purl.uniprot.org/citations/28117207 | http://purl.uniprot.org/core/volume | "70"xsd:string |
| http://purl.uniprot.org/citations/28117207 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/28117207 |
| http://purl.uniprot.org/citations/28117207 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/28117207 |
| http://purl.uniprot.org/uniprot/#_A0A0D9SFJ1-mappedCitation-28117207 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/28117207 |
| http://purl.uniprot.org/uniprot/#_B7Z262-mappedCitation-28117207 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/28117207 |
| http://purl.uniprot.org/uniprot/#_B7Z3V2-mappedCitation-28117207 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/28117207 |
| http://purl.uniprot.org/uniprot/#_B7Z8E9-mappedCitation-28117207 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/28117207 |