Lumbar and radial bone mineral density in children and adolescents with X-linked hypophosphatemia: evaluation with dual X-ray absorptiometry R. M. Shore, C. B. Langman, A. K. Poznanski Skeletal Radiology Abstract Volume 29 Issue 2 (2000) pp 90-93
Epidermal naevus syndrome and hypophosphataemic rickets: description of a patient with central nervous system anomalies and review of the literature. J. L. Olivares, F. J. Ramos, F. J. Carapeto, M. Bueno. 1999. European Journal of Pediatrics 158:103-107.
Oncogenic osteomalacia: is there a new phosphate regulating hormone? Nelson, Anne E., Robinson, Bruce G., Mason, Rebecca, S. Clinical Endocrinology 47: 635-642 1997.
The PEX gene: not a simple answer for X-linked hypophosphataemic rickets and oncogenic osteomalacia. Nelson AE; Mason RS; Robinson BG Mol Cell Endocrinol, 132(1-2):1-5 1997 [Abstract not available]
Positional cloning of the PEX gene: new insights into the pathophysiology of X-linked hypophosphatemic rickets. Econs MJ; Francis F Am J Physiol, 273(4 Pt 2):F489-98 1997 Oct
Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13. Econs MJ; McEnery PT; Lennon F; Speer MC J Clin Invest, 100(11):2653-7 1997
Tumor-induced osteomalacia: clinical and basic studies. Shane E; Parisien M; Henderson JE; Dempster DW; Feldman F; Hardy MA; Tohme JF; Karaplis AC; Clemens TL J Bone Miner Res, 12(9):1502-11 1997
Oncogenic osteomalacia: is there a new phosphate regulating hormone? Nelson AE; Robinson BG; Mason RS Clin Endocrinol (Oxf), 47(6):635-42 1997
Cloning of human PEX cDNA. Expression, subcellular localization, and endopeptidase activity. Lipman ML; Panda D; Bennett HP; Henderson JE; Shane E; Shen Y; Goltzman D; Karaplis AC. J Biol Chem, 273(22):13729-37 1998
Diagnosis of X-linked hypophosphatemic vitamin D resistant rickets. Yamamoto T. Acta Paediatr Jpn, 39(4):499-502 1997
Hypophosphatemic vitamin D-resistant rickets, precocious puberty, and the epidermal nevus syndrome. Ivker R; Resnick SD; Skidmore RA . 1997. Arch Dermatol, 133(12):1557-61
CANDIDATE GLYCOPROTEIN(S) FOR PHOSPHATURIA AND ALTERED VITAMIN-D METABOLISM IN TUMOUR OSTEOMALACIA. Rowe, P.S.N. (Intr. by J.L.H. O'Riordan) University College London, Dept of Med, London W1N 8AA. UK. 1997.
Eddy MC; McAlister WH; Whyte MP. 1997. X-linked hypophosphatemia: normal renal function despite medullary nephrocalcinosis 25 years after transient vitamin D2-induced renal azotemia. Bone, 21(6):515-20.
Mapping the 'Hyp' gene to the short arm of the human X chromosome:
Read et al, Human Genetics 73 267-270; 1986
HYP Consortium that published details of the PEX gene: Francis F,
Hennig S, Korn B, Reinhardt R, de Jong P, Poustka A,
Lehrach H, Rowe PSN, Goulding J, Summerfield T, Mountford R, Read
AP, Popowska E, Pronicka E, Davies KE, O'Riordan JLH, Econs MJ, Nesbitt T,
Drezner MK, Oudet C, Pannetier S, Hanauer A, Strom TM, Me
indl A, Lorenz B, Cagnoli M, Mohnicke KL, Murkern J, Meitinger T. A
gene (PEX) with homologies to endopeptidases is mutated in patients with
X-linked hypophosphataemic rickets. Nature Genetics 11:130-136; 1995
The gene for this disease has already been cloned (Francis, ..., Econs, Nesbitt, Drezner,...; Nature Genetics 11:130-136, 1995) who in addition have identified specific mutations that underlie the disease in several affected patients; further work is ongoing in this area with emphasisis on identifying the tissue(s) in which the gene is expressed, identifying the substrate for the gene (phosphatonin) and its tissue of origin, and determining the specific gene-related abnormalities in an affected patient (beyond renal phosphate wasting and poor bone mineralization).
Premature exfoliation of teeth in childhood and adolescence.[Review] Hartsfield JK Jr. Advances in Pediatrics 1994;41:453-70
Molecular biology of hypophosphataemic rickets and oncogenic osteomalacia. [Review] Rowe PS Human Genetics 1994 Nov;94(5):457-67
Localization of a renal sodium-phosphate cotransporter gene to human chromosome 5q35. Kos CH, Tihy F, Econs MJ, Murer H, Lemieux N, Tenenhouse HS Genomics 1994 Jan 1;19(1):176-7 [Abstract not available]
Nutritional rickets: thoughts about pathogenesis. [Review] Klein GL, Simmons DJ Annals of Medicine 1993 Aug;25(4):379-84
It is only in the last decade that therapy has resulted in healing of the bone disease and growth stimulation in some cases. (Harrell, Lyles, Harrelson, Friedman, Drezner: J Clin Invest 75:1858-1868, 1985; Friedman, Lobaugh, Drezner: J Clin Endocrinol Metab 76:839-844, 1993).
The dental abnormality in affected patients is actually better understood than you may think; the propensity for abscesses is not a defect in the enamel or the dentin per se but rather the inability of the calcospheres in dentin to coalesce leaving soft tissue areas within the teeth into which bacteria can move (Lyles, Burkes, McNamara, Harrelson, Pickett, Drezner; J Clin Endocrinol Metab 60:565-573, 1985)
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