Matches in SemOpenAlex for { <https://semopenalex.org/work/W2791705347> ?p ?o ?g. }
Showing items 1 to 84 of
84
with 100 items per page.
- W2791705347 endingPage "332" @default.
- W2791705347 startingPage "332" @default.
- W2791705347 abstract "Peroxisomal biogenesis disorders due to PEX gene defects are classified into many subgroups, of which Zellweger spectrum disorders (ZSDs) represent the major subgroup. The ZSDs are clinical and biochemical disorders divided into three phenotypes: neonatal, adolescence, or adult. Clinical presentations vary with severity of the condition. Metabolic abnormalities occur due to functional peroxisomal defects that could be detected in blood and urine. No cure or definitive management exists to date; only supportive and palliative measures are applied to prevent worse sequelae. We experienced a case of oxalate renal stones in a patient with ZSD. This patient had hyperoxaluria and hyperglycolic aciduria with clinically associated clues that correlate with urinary oxalate load. Urinary oxalate and glycolate excretion were assessed. Radiological workup revealed renal involvement with urolithiasis and nephrocalcinosis. Urinalysis and ultrasonography for stones and hyperoxaluria should be used to screen patients with ZSD for early intervention to prevent renal damage." @default.
- W2791705347 created "2018-03-29" @default.
- W2791705347 creator A5076629148 @default.
- W2791705347 date "2018-01-01" @default.
- W2791705347 modified "2023-09-26" @default.
- W2791705347 title "Renal oxalate stones in children with Zellweger spectrum disorders" @default.
- W2791705347 cites W1980096836 @default.
- W2791705347 cites W2034509759 @default.
- W2791705347 cites W2042773247 @default.
- W2791705347 cites W2072443346 @default.
- W2791705347 cites W2107602976 @default.
- W2791705347 cites W2108749367 @default.
- W2791705347 cites W2117259881 @default.
- W2791705347 cites W2209919074 @default.
- W2791705347 doi "https://doi.org/10.4103/sja.sja_699_17" @default.
- W2791705347 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5875229" @default.
- W2791705347 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29628851" @default.
- W2791705347 hasPublicationYear "2018" @default.
- W2791705347 type Work @default.
- W2791705347 sameAs 2791705347 @default.
- W2791705347 citedByCount "3" @default.
- W2791705347 countsByYear W27917053472020 @default.
- W2791705347 countsByYear W27917053472022 @default.
- W2791705347 crossrefType "journal-article" @default.
- W2791705347 hasAuthorship W2791705347A5076629148 @default.
- W2791705347 hasBestOaLocation W27917053471 @default.
- W2791705347 hasConcept C126322002 @default.
- W2791705347 hasConcept C127078168 @default.
- W2791705347 hasConcept C170493617 @default.
- W2791705347 hasConcept C178790620 @default.
- W2791705347 hasConcept C185592680 @default.
- W2791705347 hasConcept C187212893 @default.
- W2791705347 hasConcept C2776351790 @default.
- W2791705347 hasConcept C2777485865 @default.
- W2791705347 hasConcept C2779225474 @default.
- W2791705347 hasConcept C2779403450 @default.
- W2791705347 hasConcept C2780091579 @default.
- W2791705347 hasConcept C2781092957 @default.
- W2791705347 hasConcept C2781145721 @default.
- W2791705347 hasConcept C2781317408 @default.
- W2791705347 hasConcept C71924100 @default.
- W2791705347 hasConcept C77411442 @default.
- W2791705347 hasConcept C90924648 @default.
- W2791705347 hasConceptScore W2791705347C126322002 @default.
- W2791705347 hasConceptScore W2791705347C127078168 @default.
- W2791705347 hasConceptScore W2791705347C170493617 @default.
- W2791705347 hasConceptScore W2791705347C178790620 @default.
- W2791705347 hasConceptScore W2791705347C185592680 @default.
- W2791705347 hasConceptScore W2791705347C187212893 @default.
- W2791705347 hasConceptScore W2791705347C2776351790 @default.
- W2791705347 hasConceptScore W2791705347C2777485865 @default.
- W2791705347 hasConceptScore W2791705347C2779225474 @default.
- W2791705347 hasConceptScore W2791705347C2779403450 @default.
- W2791705347 hasConceptScore W2791705347C2780091579 @default.
- W2791705347 hasConceptScore W2791705347C2781092957 @default.
- W2791705347 hasConceptScore W2791705347C2781145721 @default.
- W2791705347 hasConceptScore W2791705347C2781317408 @default.
- W2791705347 hasConceptScore W2791705347C71924100 @default.
- W2791705347 hasConceptScore W2791705347C77411442 @default.
- W2791705347 hasConceptScore W2791705347C90924648 @default.
- W2791705347 hasIssue "2" @default.
- W2791705347 hasLocation W27917053471 @default.
- W2791705347 hasLocation W27917053472 @default.
- W2791705347 hasLocation W27917053473 @default.
- W2791705347 hasLocation W27917053474 @default.
- W2791705347 hasOpenAccess W2791705347 @default.
- W2791705347 hasPrimaryLocation W27917053471 @default.
- W2791705347 hasRelatedWork W2072848717 @default.
- W2791705347 hasRelatedWork W2076405201 @default.
- W2791705347 hasRelatedWork W2080925365 @default.
- W2791705347 hasRelatedWork W2338062390 @default.
- W2791705347 hasRelatedWork W2340788811 @default.
- W2791705347 hasRelatedWork W2416007616 @default.
- W2791705347 hasRelatedWork W2528268920 @default.
- W2791705347 hasRelatedWork W2791705347 @default.
- W2791705347 hasRelatedWork W4251740525 @default.
- W2791705347 hasRelatedWork W4309206569 @default.
- W2791705347 hasVolume "12" @default.
- W2791705347 isParatext "false" @default.
- W2791705347 isRetracted "false" @default.
- W2791705347 magId "2791705347" @default.
- W2791705347 workType "article" @default.