1-20 of 33
Authors: Steven Mumm
Journal Article
Pediatric hypophosphatasia: avoid diagnosis missteps! Get access
Journal of Bone and Mineral Research, Volume 39, Issue 6, June 2024, Pages 655–660, https://doi.org/10.1093/jbmr/zjae098
Published: 21 June 2024
Journal Article
ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology Get access
Journal of Bone and Mineral Research, Volume 35, Issue 10, 1 October 2020, Pages 1974–1980, https://doi.org/10.1002/jbmr.3993
Published: 27 February 2020
Journal Article
X‐Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′‐UTR Mutation c.*231A>G (A Retrospective Case–Control Study) Get access
Journal of Bone and Mineral Research, Volume 35, Issue 5, 1 May 2020, Pages 920–931, https://doi.org/10.1002/jbmr.3955
Published: 07 January 2020
Journal Article
Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25‐Dihydroxyvitamin D‐Mediated Hypercalcemia and Generalized Osteosclerosis Get access
Journal of Bone and Mineral Research, Volume 33, Issue 11, 1 November 2018, Pages 2071–2080, https://doi.org/10.1002/jbmr.3532
Published: 22 June 2018
Journal Article
Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660) Get access
Journal of Bone and Mineral Research, Volume 32, Issue 4, 1 April 2017, Pages 757–769, https://doi.org/10.1002/jbmr.3034
Published: 10 November 2016
Includes: Multimedia
Journal Article
Skeletal Fluorosis Due To Inhalation Abuse of a Difluoroethane‐Containing Computer Cleaner Get access
Journal of Bone and Mineral Research, Volume 32, Issue 1, 1 January 2017, Pages 188–195, https://doi.org/10.1002/jbmr.2923
Published: 23 July 2016
Journal Article
Idiopathic Acquired Osteosclerosis in a Middle‐Aged Woman With Systemic Lupus Erythematosus Get access
Journal of Bone and Mineral Research, Volume 31, Issue 9, 1 September 2016, Pages 1774–1782, https://doi.org/10.1002/jbmr.2842
Published: 23 March 2016
Journal Article
Neonatal High Bone Mass With First Mutation of the NF‐κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65) Get access
Journal of Bone and Mineral Research, Volume 31, Issue 1, 1 January 2016, Pages 163–172, https://doi.org/10.1002/jbmr.2590
Published: 14 July 2015
Journal Article
Reply: Response to: Rapid Skeletal Turnover in a Radiographic Mimic of Osteopetrosis Might Be Secondary to Systemic Mastocytosis Free
Journal of Bone and Mineral Research, Volume 30, Issue 8, 1 August 2015, Page 1537, https://doi.org/10.1002/jbmr.2561
Published: 10 June 2015
Journal Article
Response to: A Rapid Skeletal Turnover in Radiographic Mimic of Osteopetrosis Might Be Secondary to Systemic Mastocytosis Get access
Journal of Bone and Mineral Research, Volume 30, Issue 5, 1 May 2015, Page 946, https://doi.org/10.1002/jbmr.2455
Published: 15 January 2015
Journal Article
Lenz‐Majewski Hyperostotic Dwarfism with Hyperphosphoserinuria from a Novel Mutation in PTDSS1 Encoding Phosphatidylserine Synthase 1 Get access
Journal of Bone and Mineral Research, Volume 30, Issue 4, 1 April 2015, Pages 606–614, https://doi.org/10.1002/jbmr.2398
Published: 01 November 2014
Journal Article
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 Get access
Journal of Bone and Mineral Research, Volume 30, Issue 1, 1 January 2015, Pages 137–143, https://doi.org/10.1002/jbmr.2307
Published: 07 July 2014
Journal Article
Rapid Skeletal Turnover in a Radiographic Mimic of Osteopetrosis Get access
Journal of Bone and Mineral Research, Volume 29, Issue 12, 1 December 2014, Pages 2601–2609, https://doi.org/10.1002/jbmr.2289
Published: 12 June 2014
Journal Article
Calcific Periarthritis as the Only Clinical Manifestation of Hypophosphatasia in Middle‐Aged Sisters Get access
Journal of Bone and Mineral Research, Volume 29, Issue 4, 1 April 2014, Pages 929–934, https://doi.org/10.1002/jbmr.2110
Published: 04 October 2013
Journal Article
Panostotic Expansile Bone Disease With Massive Jaw Tumor Formation and a Novel Mutation in the Signal Peptide of RANK Get access
Journal of Bone and Mineral Research, Volume 29, Issue 4, 1 April 2014, Pages 911–921, https://doi.org/10.1002/jbmr.2094
Published: 07 September 2013
Journal Article
Pregnancy‐Associated Osteoporosis With a Heterozygous Deactivating LDL Receptor‐Related Protein 5 (LRP5) Mutation and a Homozygous Methylenetetrahydrofolate Reductase (MTHFR) Polymorphism Get access
Journal of Bone and Mineral Research, Volume 29, Issue 4, 1 April 2014, Pages 922–928, https://doi.org/10.1002/jbmr.2095
Published: 07 September 2013
Journal Article
Juvenile Paget's disease in an Iranian kindred with vitamin D deficiency and novel homozygous TNFRSF11B mutation Get access
Journal of Bone and Mineral Research, Volume 28, Issue 6, 1 June 2013, Pages 1501–1508, https://doi.org/10.1002/jbmr.1868
Published: 15 January 2013
Journal Article
Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy Get access
Journal of Bone and Mineral Research, Volume 28, Issue 2, 1 February 2013, Pages 419–430, https://doi.org/10.1002/jbmr.1752
Published: 12 September 2012
Journal Article
“Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia Get access
Journal of Bone and Mineral Research, Volume 27, Issue 5, 1 May 2012, Pages 987–994, https://doi.org/10.1002/jbmr.1565
Published: 09 February 2012
Journal Article
Fibrodysplasia ossificans progressiva: Middle‐age onset of heterotopic ossification from a unique missense mutation (c.974G > C, p.G325A) in ACVR1 Get access
Journal of Bone and Mineral Research, Volume 27, Issue 3, 1 March 2012, Pages 729–737, https://doi.org/10.1002/jbmr.1473
Published: 30 November 2011
