Search Results - "Sorenson, Andrea H."

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  1. 1

    Ablation of the Galnt3 Gene Leads to Low-Circulating Intact Fibroblast Growth Factor 23 (Fgf23) Concentrations and Hyperphosphatemia Despite Increased Fgf23 Expression by Ichikawa, Shoji, Sorenson, Andrea H, Austin, Anthony M, Mackenzie, Donald S, Fritz, Timothy A, Moh, Akira, Hui, Siu L, Econs, Michael J

    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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    A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis by Ichikawa, Shoji, Imel, Erik A, Kreiter, Mary L, Yu, Xijie, Mackenzie, Donald S, Sorenson, Andrea H, Goetz, Regina, Mohammadi, Moosa, White, Kenneth E, Econs, Michael J

    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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    Journal Article
  5. 5

    Intronic Deletions in the SLC34A3 Gene Cause Hereditary Hypophosphatemic Rickets with Hypercalciuria by Ichikawa, Shoji, Sorenson, Andrea H., Imel, Erik A., Friedman, Nancy E., Gertner, Joseph M., Econs, Michael J.

    “…Context: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder, characterized by hypophosphatemia and…”
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  6. 6

    Tumoral Calcinosis Presenting with Eyelid Calcifications due to Novel Missense Mutations in the Glycosyl Transferase Domain of the GALNT3 Gene by Ichikawa, Shoji, Imel, Erik A., Sorenson, Andrea H., Severe, Rebecca, Knudson, Paul, Harris, Gerald J., Shaker, Joseph L., Econs, Michael J.

    “…Context: Familial tumoral calcinosis (TC) is a rare autosomal recessive disorder characterized by metastatic calcifications, often periarticular. Biochemical…”
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  7. 7

    Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets by Ichikawa, Shoji, Traxler, Elizabeth A, Estwick, Selina A, Curry, Leah R, Johnson, Michelle L, Sorenson, Andrea H, Imel, Erik A, Econs, Michael J

    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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  8. 8

    Discordance for X-linked hypophosphataemic rickets in identical twin girls by Owen, Catherine J, Habeb, Abdul, Pearce, Simon H S, Wright, Michael, Ichikawa, Shoji, Sorenson, Andrea H, Econs, Michael J, Cheetham, Tim D

    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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    Journal Article