FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4256162337> ?p ?o ?g. }

• W4256162337 endingPage "178" @default.
• W4256162337 startingPage "177" @default.
• W4256162337 abstract "Slyper et al. have described what seems to be a unique hypophosphatemic syndrome in a child with osteomalacia, hypophosphatemia, and hypercalciuria.1Slyper AH Shaker JL Thometz JG McCormick K Osteomalacia with hypophosphatemia and hypercalciuria: a possible new variant of osteomalacia.J Pediatr. 1995; 127: 105-109Abstract Full Text Full Text PDF PubMed Scopus (2) Google Scholar The authors stated that, other than their patient, the only form of congenital hypophosphatemic rickets with hypercalciuria is the disorder described in Bedouin tribesmen by Tieder et al.2Tieder M Modai D Shaked U et al.Hereditary hypophosphatemic rickets with hypercalciuria.N Engl J Med. 1985; 312: 611-617Crossref PubMed Scopus (229) Google Scholar I would like to point out that I described a patient with hypophosphatemic rickets, hypercalciuria, and microglobulinuria in 1987 in The Journal of Pediatrics.3Carey DE Hopfer SM Hypophosphatemic rickets with hypercalciuria and microglobulinuria.J Pediatr. 1987; 111: 860-863Abstract Full Text PDF PubMed Scopus (7) Google Scholar Renal defects in the reabsorption of calcium, phosphorus, and microproteins appeared to be present, and bone disease markedly improved when a calcium-sparing diuretic was added to the therapeutic regimen of phosphorus and calcitriol. The similarity between my patient and two patients described in 1964 by Dent and Friedman was noted.4Dent CE Friedman M Hypercalciuric rickets associated with renal tubular damage.Arch Dis Child. 1964; 39: 240Crossref PubMed Scopus (126) Google Scholar In 1993 Pook et al.5Pook MA Wrong O Wooding C et al.Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.Hum Mol Genet. 1993; 2: 2129-2134Crossref PubMed Scopus (86) Google Scholar demonstrated a microdeletion of the pericentromeric region of the short arm of the X chromosome responsible for an X-linked renal tubular disorder associated with rickets, low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, and nephrolithiasis, which they appropriately termed Dent disease.5Pook MA Wrong O Wooding C et al.Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.Hum Mol Genet. 1993; 2: 2129-2134Crossref PubMed Scopus (86) Google Scholar Recently the same group demonstrated mutations in a renal-specific voltage-gated chloride channel, CIC-5, in both Dent disease and X-linked recessive nephrolithiasis.6Lloyd SF Pearce SHS Fisher SE et al.Hereditary nephrolithiasis is associated with mutations in an X-linked chloride channel gene.J Bone Min Res. 1995; 10: S175PubMed Google Scholar It has become increasingly clear that all hypophosphatemic rickets is not classical X-linked hypophosphatemia. Therefore it behooves clinicians to obtain extensive baseline biochemical testing when treating a rachitic child whose history suggests a familial disorder or the absence of simple vitamin D deficiency. Initial delineation of the proper biochemical defect prevents inappropriate diagnosis and long periods of ineffective therapy and is cost effective in the long term. Furthermore, descriptions of unique syndromes such as that described by Slyper et al. may lead to a better understanding of pathophysiologic mechanisms of broad importance as has been the case with Dent disease. 9/35/73081" @default.
• W4256162337 created "2022-05-12" @default.
• W4256162337 creator A5051185059 @default.
• W4256162337 date "1996-07-01" @default.
• W4256162337 modified "2023-09-30" @default.
• W4256162337 title "Hypophosphatemic rickets" @default.
• W4256162337 doi "https://doi.org/10.1016/s0022-3476(96)70220-2" @default.
• W4256162337 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8757586" @default.
• W4256162337 hasPublicationYear "1996" @default.
• W4256162337 type Work @default.
• W4256162337 citedByCount "0" @default.
• W4256162337 crossrefType "journal-article" @default.
• W4256162337 hasAuthorship W4256162337A5051185059 @default.
• W4256162337 hasBestOaLocation W42561623371 @default.
• W4256162337 hasConcept C124490489 @default.
• W4256162337 hasConcept C126322002 @default.
• W4256162337 hasConcept C134018914 @default.
• W4256162337 hasConcept C187212893 @default.
• W4256162337 hasConcept C2776489590 @default.
• W4256162337 hasConcept C2777724520 @default.
• W4256162337 hasConcept C2778049618 @default.
• W4256162337 hasConcept C2778573388 @default.
• W4256162337 hasConcept C2779026464 @default.
• W4256162337 hasConcept C2780091579 @default.
• W4256162337 hasConcept C2781145721 @default.
• W4256162337 hasConcept C2911197707 @default.
• W4256162337 hasConcept C519063684 @default.
• W4256162337 hasConcept C71924100 @default.
• W4256162337 hasConceptScore W4256162337C124490489 @default.
• W4256162337 hasConceptScore W4256162337C126322002 @default.
• W4256162337 hasConceptScore W4256162337C134018914 @default.
• W4256162337 hasConceptScore W4256162337C187212893 @default.
• W4256162337 hasConceptScore W4256162337C2776489590 @default.
• W4256162337 hasConceptScore W4256162337C2777724520 @default.
• W4256162337 hasConceptScore W4256162337C2778049618 @default.
• W4256162337 hasConceptScore W4256162337C2778573388 @default.
• W4256162337 hasConceptScore W4256162337C2779026464 @default.
• W4256162337 hasConceptScore W4256162337C2780091579 @default.
• W4256162337 hasConceptScore W4256162337C2781145721 @default.
• W4256162337 hasConceptScore W4256162337C2911197707 @default.
• W4256162337 hasConceptScore W4256162337C519063684 @default.
• W4256162337 hasConceptScore W4256162337C71924100 @default.
• W4256162337 hasIssue "1" @default.
• W4256162337 hasLocation W42561623371 @default.
• W4256162337 hasLocation W42561623372 @default.
• W4256162337 hasOpenAccess W4256162337 @default.
• W4256162337 hasPrimaryLocation W42561623371 @default.
• W4256162337 hasRelatedWork W1580835178 @default.
• W4256162337 hasRelatedWork W1969858237 @default.
• W4256162337 hasRelatedWork W1978992507 @default.
• W4256162337 hasRelatedWork W2005859685 @default.
• W4256162337 hasRelatedWork W2413073934 @default.
• W4256162337 hasRelatedWork W2418277852 @default.
• W4256162337 hasRelatedWork W2419617187 @default.
• W4256162337 hasRelatedWork W4220905218 @default.
• W4256162337 hasRelatedWork W4256162337 @default.
• W4256162337 hasRelatedWork W4282945632 @default.
• W4256162337 hasVolume "129" @default.
• W4256162337 isParatext "false" @default.
• W4256162337 isRetracted "false" @default.
• W4256162337 workType "article" @default.