Search Results - "Sorenson, Andrea H."
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Ablation of the Galnt3 Gene Leads to Low-Circulating Intact Fibroblast Growth Factor 23 (Fgf23) Concentrations and Hyperphosphatemia Despite Increased Fgf23 Expression
Published in Endocrinology (Philadelphia) (01-06-2009)“…Familial tumoral calcinosis is characterized by ectopic calcifications and hyperphosphatemia. The disease is caused by inactivating mutations in fibroblast…”
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Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations
Published in American journal of medical genetics. Part A (01-04-2010)“…The GALNT3 gene encodes GalNAc‐T3, which prevents degradation of the phosphaturic hormone, fibroblast growth factor 23 (FGF23). Biallelic mutations in either…”
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Novel GALNT3 Mutations Causing Hyperostosis-Hyperphosphatemia Syndrome Result in Low Intact Fibroblast Growth Factor 23 Concentrations
Published in The journal of clinical endocrinology and metabolism (01-05-2007)“…Context: Hyperostosis-hyperphosphatemia syndrome (HHS) is a rare metabolic disorder characterized by hyperphosphatemia and localized hyperostosis. HHS is…”
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A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis
Published in The Journal of clinical investigation (01-09-2007)“…Familial tumoral calcinosis is characterized by ectopic calcifications and hyperphosphatemia due to inactivating mutations in FGF23 or…”
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Intronic Deletions in the SLC34A3 Gene Cause Hereditary Hypophosphatemic Rickets with Hypercalciuria
Published in The journal of clinical endocrinology and metabolism (01-10-2006)“…Context: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder, characterized by hypophosphatemia and…”
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Tumoral Calcinosis Presenting with Eyelid Calcifications due to Novel Missense Mutations in the Glycosyl Transferase Domain of the GALNT3 Gene
Published in The journal of clinical endocrinology and metabolism (01-11-2006)“…Context: Familial tumoral calcinosis (TC) is a rare autosomal recessive disorder characterized by metastatic calcifications, often periarticular. Biochemical…”
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Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets
Published in Bone (New York, N.Y.) (01-10-2008)“…Abstract X-linked hypophosphatemic rickets (XLH) is a dominantly inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism,…”
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Discordance for X-linked hypophosphataemic rickets in identical twin girls
Published in Hormone research (01-01-2009)“…We report monozygotic twin girls with a family history consistent with X-linked hypophosphataemic rickets (XLH). One twin had a skeletal and biochemical…”
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