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Bone
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March 23, 2020
Healing of vitamin D deficiency rickets complicating hypophosphatasia suggests a role beyond circulating mineral sufficiency for vitamin D in musculoskeletal health
Elizabeth 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 rickets
Steven Mumm, Margaret Huskey, Adela Cajic, et al.
Nature Genetics
|
March 23, 2004
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
Giles D J Watts, Jill Wymer, Margaret J Kovach, et al.
Bone
|
June 1, 2020
Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boy
Michael P Whyte, Nina S Ma, Steven Mumm, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
June 30, 2011
Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review)
Deborah Wenkert, William H McAlister, Stephen P Coburn, et al.
Bone
|
April 13, 2025
Duplications within exon 1 of TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK) are associated with tendon avulsion
Jill H Simmons, Edna E Mancilla, Steven Mumm, et al.
The Journal of Pediatrics
|
April 14, 2019
Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study
Michael P Whyte, Edward Leung, William R Wilcox, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
November 19, 2016
Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)
Michael P Whyte, William H McAlister, Michael D Fallon, et al.
JBMR Plus
|
August 22, 2022
Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity
Serap Turan, Steven Mumm, Ceren Alavanda, et al.
The Lancet. Diabetes & Endocrinology
|
December 19, 2018
Asfotase alfa for infants and young children with hypophosphatasia: 7 year outcomes of a single-arm, open-label, phase 2 extension trial
Michael P Whyte, Jill H Simmons, Scott Moseley, et al.
Page
of 17
Search research articles
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Showing results (101-110 of 165) with videos related to
Sort By:
Page
of 17
Bone
|
March 23, 2020
Healing of vitamin D deficiency rickets complicating hypophosphatasia suggests a role beyond circulating mineral sufficiency for vitamin D in musculoskeletal health
Elizabeth 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 rickets
Steven Mumm, Margaret Huskey, Adela Cajic, et al.
Nature Genetics
|
March 23, 2004
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
Giles D J Watts, Jill Wymer, Margaret J Kovach, et al.
Bone
|
June 1, 2020
Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boy
Michael P Whyte, Nina S Ma, Steven Mumm, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
June 30, 2011
Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review)
Deborah Wenkert, William H McAlister, Stephen P Coburn, et al.
Bone
|
April 13, 2025
Duplications within exon 1 of TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK) are associated with tendon avulsion
Jill H Simmons, Edna E Mancilla, Steven Mumm, et al.
The Journal of Pediatrics
|
April 14, 2019
Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study
Michael P Whyte, Edward Leung, William R Wilcox, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
November 19, 2016
Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)
Michael P Whyte, William H McAlister, Michael D Fallon, et al.
JBMR Plus
|
August 22, 2022
Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity
Serap Turan, Steven Mumm, Ceren Alavanda, et al.
The Lancet. Diabetes & Endocrinology
|
December 19, 2018
Asfotase alfa for infants and young children with hypophosphatasia: 7 year outcomes of a single-arm, open-label, phase 2 extension trial
Michael P Whyte, Jill H Simmons, Scott Moseley, et al.
Page
of 17