Disturbances in phosphate metabolism

Goldbloom RB et al. (1966) Idiopathic periosteal hyperostosis with dysproteinemia. A new clinical entity.

None (1966) Tumoural calcinosis.

None (1966) Calcifying collagenolysis (tumoural calcinosis).

Harkess JW et al. (1967) Tumoral calcinosis. A report of six cases.

Mitnick PD et al. (1980) Calcium and phosphate metabolism in tumoral calcinosis.

Mikati MA et al. (1981) The syndrome of hyperostosis and hyperphosphatemia.

Clarke E et al. (1984) Tumoral calcinosis, diaphysitis, and hyperphosphatemia.

Zerwekh JE et al. (1980) Tumoral calcinosis: evidence for concurrent defects in renal tubular phosphorus transport and in 1 alpha,25-dihydroxycholecalciferol synthesis.

Prince MJ et al. (1982) Hyperphosphatemic tumoral calcinosis: association with elevation of serum 1,25-dihydroxycholecalciferol concentrations.

Chausmer A et al. (1982) Phosphate depletion therapy in two ectopic calcification syndromes.

Balachandran S et al. (1980) Tumoral calcinosis: scintigraphic studies of an affected family.

None (1997) Hyperostosis with hyperphosphatemia: evidence of familial occurrence and association with tumoral calcinosis.

Adams WM et al. (1999) Familial tumoral calcinosis: association with cerebral and peripheral aneurysm formation.

BARTON DL et al. (1961) Tumoral calcinosis. Report of three cases and review of the literature.

ALTMAN HS et al. (1961) Chronic polyostotic periostitis of unknown etiology.

None () [A familial form of lipocalcigranulomatosis with arterial calcinosis].

WINTERS RW et al. (1958) A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature.

Econs MJ et al. (1998) A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.

Sabbagh Y et al. (2000) PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia.

Quarles LD et al. (2001) Pathophysiology of X-linked hypophosphatemia, tumor-induced osteomalacia, and autosomal dominant hypophosphatemia: a perPHEXing problem.

Mäkitie O et al. (2003) Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets.

BLACKARD WG et al. (1962) Familial hypophosphatemia. Report of a case, with observations regarding pathogenesis.

BURNETT CH et al. (1964) VITAMIN D-RESISTANT RICKETS. ANALYSIS OF TWENTY-FOUR PEDIGREES WITH HEREDITARY AND SPORADIC CASES.

Savio RM et al. (2004) Parathyroidectomy for tertiary hyperparathyroidism associated with X-linked dominant hypophosphatemic rickets.

Cho HY et al. (2005) A clinical and molecular genetic study of hypophosphatemic rickets in children.

Makras P et al. (2008) Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene.

Gaucher C et al. (2009) PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.

Levine BS et al. (2009) The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport.

Liu ES et al. (2011) Calcitonin administration in X-linked hypophosphatemia.

Abbud Y et al. (1979) Scintiscans of two siblings with tumoral calcinosis.

Lyles KW et al. (1985) Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity.

Slavin RE et al. (1993) Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis.

MCPHAUL JJ et al. (1961) Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina.

Topaz O et al. (2004) Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.

Frishberg Y et al. (2005) Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.

Ichikawa S et al. (2005) A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.

Specktor P et al. (2006) Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.

Ichikawa S et al. (2006) Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene.

Ichikawa S et al. (2010) Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.

Ichikawa S et al. (2007) A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.

None (2000) Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.

Benet-Pagès A et al. (2005) An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

Chefetz I et al. (2005) A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.

Steinherz R et al. (1985) Elevated serum calcitriol concentrations do not fall in response to hyperphosphatemia in familial tumoral calcinosis.

Pursley TV et al. (1979) Cutaneous manifestations of tumoral calcinosis.

None (1978) Tumoral calcinosis. A clinical and pathological study of eleven unreported cases in Turkey.

Wilson MP et al. (1989) Hyperphosphatemia associated with cortical hyperostosis and tumoral calcinosis.

Witcher SL et al. (1989) Tumoral calcinosis with unusual dental radiographic findings.

Gregosiewicz A et al. (1989) Tumoral calcinosis: successful medical treatment. A case report.

Talab YA et al. () Hyperostosis with hyperphosphatemia: a case report and review of the literature.

Davies M et al. (1987) Tumoral calcinosis: clinical and metabolic response to phosphorus deprivation.

Mozaffarian G et al. (1972) Treatment of tumoral calcinosis with phosphorus deprivation.

Altman HS et al. (1971) Cortical hyperostosis with hyperphosphatemia.

James AE et al. (1969) Roentgen findings in pseudoxanthoma elasticum (PXE).

Melhem RE et al. (1970) Cortical hyperostosis with hyperphosphatemia: a new syndrome?

Najjar SS et al. (1968) Tumoral calcinosis and pseudoxanthoma elasticum.

McClatchie S et al. (1969) Tumoral calcinosis--an unrecognized disease.