Matches in SemOpenAlex for { <https://semopenalex.org/work/W2950876973> ?p ?o ?g. }
Showing items 1 to 95 of
95
with 100 items per page.
- W2950876973 abstract "Background and aims Gitelman syndrome (GS) is a rare renal channelopathy with an autosomal recessive type of inheritance, caused by homozygous or compound heterozygous mutations in SLC12A3 gene. The disorder causes metabolic abnormalities and may be overlapped with Barter type 3 syndrome. Methods A 7 year-old boy presented with a history of several episodes of carpopedal spasms and muscle aches in the last few months. The boy has been a relatively healthy child previously. His auxological parameters were within normal range for his sex and age. Diagnostic assessment was achieved by characteristic symptoms, imaging technics, biochemical, hormonal and molecular analyses. Results The biochemical analyses revealed hypokalemia (3.0–3.4 mmol/l), hypomagnesemia (0.64–0.66 mmol/l), hypocalciuria ( A pathogenic variants and also heterozygous for the SLC12A3 c.2944 A>T (p.Ile982Phe) likely pathogenic variant. His mother was a heterozygous for the c.2944 A>T (p.Ile982Phe) mutation, but his father was heterozygous for the other 2 variants (SLC12A3 c.1805_1806del and c.2660+1G>A). Conclusions Herein we present a first child from Macedonia with clinical manifestations and electrolyte imbalances typical for a GS. The results of the molecular analyses were consistent with the diagnosis of GS. The boy is on a high salt diet and oral potassium and magnesium supplements." @default.
- W2950876973 created "2019-06-27" @default.
- W2950876973 creator A5009076975 @default.
- W2950876973 creator A5009302202 @default.
- W2950876973 creator A5016967873 @default.
- W2950876973 creator A5019805529 @default.
- W2950876973 creator A5033715718 @default.
- W2950876973 creator A5089125403 @default.
- W2950876973 date "2019-06-01" @default.
- W2950876973 modified "2023-09-27" @default.
- W2950876973 title "P429 Gitelman Syndrome – Report of the first pediatric patient from Macedonia" @default.
- W2950876973 doi "https://doi.org/10.1136/archdischild-2019-epa.765" @default.
- W2950876973 hasPublicationYear "2019" @default.
- W2950876973 type Work @default.
- W2950876973 sameAs 2950876973 @default.
- W2950876973 citedByCount "0" @default.
- W2950876973 crossrefType "proceedings-article" @default.
- W2950876973 hasAuthorship W2950876973A5009076975 @default.
- W2950876973 hasAuthorship W2950876973A5009302202 @default.
- W2950876973 hasAuthorship W2950876973A5016967873 @default.
- W2950876973 hasAuthorship W2950876973A5019805529 @default.
- W2950876973 hasAuthorship W2950876973A5033715718 @default.
- W2950876973 hasAuthorship W2950876973A5089125403 @default.
- W2950876973 hasBestOaLocation W29508769731 @default.
- W2950876973 hasConcept C104317684 @default.
- W2950876973 hasConcept C12125453 @default.
- W2950876973 hasConcept C126322002 @default.
- W2950876973 hasConcept C134018914 @default.
- W2950876973 hasConcept C135763542 @default.
- W2950876973 hasConcept C153471976 @default.
- W2950876973 hasConcept C187212893 @default.
- W2950876973 hasConcept C191897082 @default.
- W2950876973 hasConcept C192562407 @default.
- W2950876973 hasConcept C2776183862 @default.
- W2950876973 hasConcept C2776356786 @default.
- W2950876973 hasConcept C2777735490 @default.
- W2950876973 hasConcept C2778242168 @default.
- W2950876973 hasConcept C2779749707 @default.
- W2950876973 hasConcept C2780091579 @default.
- W2950876973 hasConcept C2780643589 @default.
- W2950876973 hasConcept C501734568 @default.
- W2950876973 hasConcept C543218039 @default.
- W2950876973 hasConcept C54355233 @default.
- W2950876973 hasConcept C71924100 @default.
- W2950876973 hasConcept C86803240 @default.
- W2950876973 hasConcept C90924648 @default.
- W2950876973 hasConceptScore W2950876973C104317684 @default.
- W2950876973 hasConceptScore W2950876973C12125453 @default.
- W2950876973 hasConceptScore W2950876973C126322002 @default.
- W2950876973 hasConceptScore W2950876973C134018914 @default.
- W2950876973 hasConceptScore W2950876973C135763542 @default.
- W2950876973 hasConceptScore W2950876973C153471976 @default.
- W2950876973 hasConceptScore W2950876973C187212893 @default.
- W2950876973 hasConceptScore W2950876973C191897082 @default.
- W2950876973 hasConceptScore W2950876973C192562407 @default.
- W2950876973 hasConceptScore W2950876973C2776183862 @default.
- W2950876973 hasConceptScore W2950876973C2776356786 @default.
- W2950876973 hasConceptScore W2950876973C2777735490 @default.
- W2950876973 hasConceptScore W2950876973C2778242168 @default.
- W2950876973 hasConceptScore W2950876973C2779749707 @default.
- W2950876973 hasConceptScore W2950876973C2780091579 @default.
- W2950876973 hasConceptScore W2950876973C2780643589 @default.
- W2950876973 hasConceptScore W2950876973C501734568 @default.
- W2950876973 hasConceptScore W2950876973C543218039 @default.
- W2950876973 hasConceptScore W2950876973C54355233 @default.
- W2950876973 hasConceptScore W2950876973C71924100 @default.
- W2950876973 hasConceptScore W2950876973C86803240 @default.
- W2950876973 hasConceptScore W2950876973C90924648 @default.
- W2950876973 hasLocation W29508769731 @default.
- W2950876973 hasOpenAccess W2950876973 @default.
- W2950876973 hasPrimaryLocation W29508769731 @default.
- W2950876973 hasRelatedWork W1598068213 @default.
- W2950876973 hasRelatedWork W1966540146 @default.
- W2950876973 hasRelatedWork W1982600842 @default.
- W2950876973 hasRelatedWork W2044730654 @default.
- W2950876973 hasRelatedWork W2066031344 @default.
- W2950876973 hasRelatedWork W2347740066 @default.
- W2950876973 hasRelatedWork W2766174363 @default.
- W2950876973 hasRelatedWork W2893349307 @default.
- W2950876973 hasRelatedWork W2900392842 @default.
- W2950876973 hasRelatedWork W2920887479 @default.
- W2950876973 hasRelatedWork W2982412601 @default.
- W2950876973 hasRelatedWork W2991115367 @default.
- W2950876973 hasRelatedWork W2999280615 @default.
- W2950876973 hasRelatedWork W3036800037 @default.
- W2950876973 hasRelatedWork W3040044068 @default.
- W2950876973 hasRelatedWork W3042416450 @default.
- W2950876973 hasRelatedWork W3042556231 @default.
- W2950876973 hasRelatedWork W3095459616 @default.
- W2950876973 hasRelatedWork W3159149103 @default.
- W2950876973 hasRelatedWork W3193703842 @default.
- W2950876973 isParatext "false" @default.
- W2950876973 isRetracted "false" @default.
- W2950876973 magId "2950876973" @default.
- W2950876973 workType "article" @default.