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Proceedings of the National Academy of Sciences of the United States of America|May 1, 1990
Conservation of the regulatory subunit for the Clp ATP-dependent protease in prokaryotes and eukaryotesS Gottesman, C Squires, E Pichersky, et al.Bone|February 2, 2024
Pyridoxine challenge reflects pediatric hypophosphatasia severity and thereby examines tissue-nonspecific alkaline phosphatase's role in vitamin B6 metabolismMichael P Whyte, Fan Zhang, Karen E Mack, et al.Orbit (Amsterdam, Netherlands)|February 28, 2022
Intravascular Large B-cell Lymphoma Diagnosed by Nasal Biopsy in a Patient Presenting with Bilateral Ptosis and OphthalmoplegiaDiane Wang, Charlotte L Marous, Fatih Ozay, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|January 8, 2020
X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3'-UTR Mutation c.*231A>G (A Retrospective Case-Control Study)Pamela S Smith, Gary S Gottesman, Fan Zhang, et al.Bone|March 23, 2020
Healing of vitamin D deficiency rickets complicating hypophosphatasia suggests a role beyond circulating mineral sufficiency for vitamin D in musculoskeletal healthElizabeth L Lin, Gary S Gottesman, William H McAlister, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 22, 2014
PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic ricketsSteven Mumm, Margaret Huskey, Adela Cajic, et al.Bone|June 1, 2020
Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boyMichael P Whyte, Nina S Ma, Steven Mumm, et al.Urology Case Reports|June 3, 2024
Inflammatory myofibroblastic tumor in a patient with X-Linked hypophosphatemia: A case of Occam's razor or Hickam's dictum?Farhan Chowdry, Kelsey M Miller, Ersan Altun, et al.The Journal of Clinical Endocrinology and Metabolism|September 22, 2000
A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindredS Mumm, P T Christie, P Finnegan, et al.American Journal of Medical Genetics. Part A|July 4, 2014
Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesisSteven Mumm, Margaret Huskey, Shenghui Duan, et al.Pageof 14