Michael P Whyte

Michael P Whyte

UNVERIFIED PROFILE

Are you Michael P Whyte?   Register this Author

Register author
Michael P Whyte

Michael P Whyte

Publications by authors named "Michael P Whyte"

Are you Michael P Whyte?   Register this Author

100Publications

2325Reads

38Profile Views

Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANK.

Bone 2020 Apr 8;133:115224. Epub 2020 Jan 8.

Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO, USA; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St. Louis, St. Louis, MO, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2020.115224DOI Listing
April 2020

Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?

Bone 2020 Mar 13;132:115190. Epub 2019 Dec 13.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children - St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO 63110, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2019.115190DOI Listing
March 2020

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation.

Bone 2020 Jan 28;130:115047. Epub 2019 Aug 28.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2019.115047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6945817PMC
January 2020

X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3'-UTR Mutation c.*231A>G (A Retrospective Case-Control Study).

J Bone Miner Res 2020 Jan 7. Epub 2020 Jan 7.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children - St. Louis, St. Louis, MO, 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.3955DOI Listing
January 2020

Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism.

Endocr Connect 2020 Jan 1. Epub 2020 Jan 1.

R Thakker, NUFFIELD DEPARTMENT OF CLINICAL MEDICINE, UNIVERSITY OF OXFORD, OXFORD, OX3 7LJ, United Kingdom of Great Britain and Northern Ireland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EC-19-0478DOI Listing
January 2020

New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6.

Bone 2019 Oct 11;127:228-243. Epub 2019 May 11.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children - St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO 63110, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2019.05.003DOI Listing
October 2019

Genetic approaches to metabolic bone diseases.

Br J Clin Pharmacol 2019 06 28;85(6):1147-1160. Epub 2018 Nov 28.

Academic Endocrine Unit, Radcliffe Department of Medicine,, University of Oxford, Oxford, UK.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/bcp.13803
Publisher Site
http://dx.doi.org/10.1111/bcp.13803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533455PMC
June 2019

No vascular calcification on cardiac computed tomography spanning asfotase alfa treatment for an elderly woman with hypophosphatasia.

Bone 2019 05 28;122:231-236. Epub 2019 Feb 28.

Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2019.02.025DOI Listing
May 2019

Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia.

Bone 2019 04 18;121:149-162. Epub 2018 Dec 18.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2018.12.011DOI Listing
April 2019

Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study.

Bone 2019 04 16;121:243-254. Epub 2019 Jan 16.

Department of Clinical Research, Faculty of Health, University of Southern Denmark (SDU), Winsløwparken 19. 3, DK-5000 Odense C, Denmark; Department of Clinical Genetics, Odense University Hospital, J.B. Winsløws Vej 4, DK-5000 Odense C, Denmark. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2019.01.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6457251PMC
April 2019

Efficacy and safety of burosumab in children aged 1-4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial.

Lancet Diabetes Endocrinol 2019 Mar 9;7(3):189-199. Epub 2019 Jan 9.

Indiana University School of Medicine, Indianapolis, IN, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S2213-8587(18)30338-3DOI Listing
March 2019

Skeletal fluorosis in a resettled refugee from Kakuma refugee camp.

Lancet 2019 01;393(10168):223-225

Department of Medicine, Cumming School of Medicine, University of Calgary, Calgary T2N 4Z6, AB, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S0140-6736(18)32842-3DOI Listing
January 2019

Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review.

Bone 2018 11 2;116:321-332. Epub 2018 Aug 2.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO 63110, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S87563282183029
Publisher Site
http://dx.doi.org/10.1016/j.bone.2018.07.022DOI Listing
November 2018

Validation of a Novel Scoring System for Changes in Skeletal Manifestations of Hypophosphatasia in Newborns, Infants, and Children: The Radiographic Global Impression of Change Scale.

J Bone Miner Res 2018 05 14;33(5):868-874. Epub 2018 Feb 14.

Mallinckrodt Institute of Radiology, Washington University School of Medicine at St. Louis Children's Hospital, St. Louis, MO, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.3377DOI Listing
May 2018

Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosology.

Bone 2018 05 31;110:96-106. Epub 2018 Jan 31.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO 63110, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2018.01.022DOI Listing
May 2018

Burosumab Therapy in Children with X-Linked Hypophosphatemia.

N Engl J Med 2018 05;378(21):1987-1998

From Yale University School of Medicine, New Haven, CT (T.O.C.); Shriners Hospital for Children and Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis (M.P.W.); Indiana University School of Medicine, Indianapolis (E.A.I.); University of Groningen, Groningen, the Netherlands (A.M.B.); Birmingham Children's Hospital, Birmingham (W. Högler), Royal Manchester Children's Hospital, Manchester (R.P.), and Great Ormond Street Hospital, London (W. van't Hoff) - all in the United Kingdom; Assistance Publique-Hôpitaux de Paris Hôpital Bicêtre, Paris (A.L.); and Ultragenyx Pharmaceutical, Novato (M.M., C.-Y.C., A.S., E.K., J.S.M.), and University of California at San Francisco, San Francisco (A.A.P.) - both in California.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1714641DOI Listing
May 2018

Commentary.

Authors:
Michael P Whyte

Clin Chem 2018 04;64(4):643-644

Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine and Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1373/clinchem.2017.280784DOI Listing
April 2018

Alkaline Phosphatase: Discovery and Naming of Our Favorite Enzyme.

J Bone Miner Res 2018 02 14;33(2):362-364. Epub 2017 Aug 14.

Washington University School of Medicine, St. Louis, MO, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.3225DOI Listing
February 2018

Hypophosphatasia: An overview For 2017.

Authors:
Michael P Whyte

Bone 2017 Sep 24;102:15-25. Epub 2017 Feb 24.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, Missouri, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2017.02.011DOI Listing
September 2017

Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.

Bone 2017 Aug 21;101:145-155. Epub 2017 Apr 21.

McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110, USA; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA; Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO 63110, USA; Division of Genomics and Bioinformatics, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2017.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518630PMC
August 2017

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).

J Bone Miner Res 2017 04 14;32(4):757-769. Epub 2016 Dec 14.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.3034DOI Listing
April 2017

Hypophosphatasia: Enzyme Replacement Therapy Brings New Opportunities and New Challenges.

Authors:
Michael P Whyte

J Bone Miner Res 2017 04 31;32(4):667-675. Epub 2017 Jan 31.

Department of Internal Medicine, Division of Bone and Mineral Diseases, Washington University School of Medicine, and Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/jbmr.3075
Publisher Site
http://dx.doi.org/10.1002/jbmr.3075DOI Listing
April 2017

Osteopontin and the dento-osseous pathobiology of X-linked hypophosphatemia.

Bone 2017 02 21;95:151-161. Epub 2016 Nov 21.

Faculty of Dentistry, McGill University, Montreal, QC, Canada; Department of Anatomy and Cell Biology, Faculty of Medicine, McGill University, Montreal, QC, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2016.11.019DOI Listing
February 2017

Skeletal Fluorosis Due To Inhalation Abuse of a Difluoroethane-Containing Computer Cleaner.

J Bone Miner Res 2017 01 14;32(1):188-195. Epub 2016 Oct 14.

Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.2923DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5977397PMC
January 2017

Hypophosphatasia: Natural history study of 101 affected children investigated at one research center.

Bone 2016 12 27;93:125-138. Epub 2016 Aug 27.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2016.08.019DOI Listing
December 2016

Idiopathic Acquired Osteosclerosis in a Middle-Aged Woman With Systemic Lupus Erythematosus.

J Bone Miner Res 2016 09 9;31(9):1774-82. Epub 2016 May 9.

Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.2842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010446PMC
September 2016

Asfotase alfa therapy for children with hypophosphatasia.

JCI Insight 2016 06 16;1(9):e85971. Epub 2016 Jun 16.

The University of Manitoba, Faculty of Health Sciences, Department of Pediatrics and Child Health, Winnipeg, Manitoba, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1172/jci.insight.85971DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5033855PMC
June 2016

Commentary.

Authors:
Michael P Whyte

Clin Chem 2016 05;62(5):688

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, and Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine; St. Louis, MO.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1373/clinchem.2015.248765DOI Listing
May 2016

Alkaline Phosphatase and Hypophosphatasia.

Calcif Tissue Int 2016 Apr 21;98(4):398-416. Epub 2015 Nov 21.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO, 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00223-015-0079-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824800PMC
April 2016

Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease.

Am J Med Genet A 2016 Apr 14;170A(4):978-85. Epub 2016 Jan 14.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, Missouri.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37536DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111855PMC
April 2016

Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.

Authors:
Michael P Whyte

Nat Rev Endocrinol 2016 Apr 19;12(4):233-46. Epub 2016 Feb 19.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, 4400 Clayton Avenue, Saint Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrendo.2016.14DOI Listing
April 2016

Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9.

Bone 2016 Mar 31;84:289-298. Epub 2015 Dec 31.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO 63110, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2015.11.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755825PMC
March 2016

Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia.

J Clin Endocrinol Metab 2016 Jan 3;101(1):334-42. Epub 2015 Nov 3.

Shriners Hospital for Children (M.P.W.) and Division of Bone and Mineral Diseases at Washington University School of Medicine (M.P.W.), St Louis, Missouri 63110; University of Manitoba and Children's Hospital Research Institute of Manitoba (C.R.-G.), Winnipeg, MB R3T 2N2 Canada; Graduate School of Medicine (K.O.), Osaka University, Osaka, 565-0871 Japan; Alexion Pharmaceuticals, Inc. (R.R., S.M., A.M., D.D.T.), Cheshire, Connecticut 06410; Department of Human Metabolism (N.B.), University of Sheffield, Sheffield, S10 2TN United Kingdom; Sheffield Children's Hospital (N.B.), Sheffield, S10 2TH United Kingdom; University Children's Hospital (C.H.), University of Würzburg, Würzburg, D-97080 Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2015-3462DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4701846PMC
January 2016

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Authors:
Jenny C Taylor Hilary C Martin Stefano Lise John Broxholme Jean-Baptiste Cazier Andy Rimmer Alexander Kanapin Gerton Lunter Simon Fiddy Chris Allan A Radu Aricescu Moustafa Attar Christian Babbs Jennifer Becq David Beeson Celeste Bento Patricia Bignell Edward Blair Veronica J Buckle Katherine Bull Ondrej Cais Holger Cario Helen Chapel Richard R Copley Richard Cornall Jude Craft Karin Dahan Emma E Davenport Calliope Dendrou Olivier Devuyst Aimée L Fenwick Jonathan Flint Lars Fugger Rodney D Gilbert Anne Goriely Angie Green Ingo H Greger Russell Grocock Anja V Gruszczyk Robert Hastings Edouard Hatton Doug Higgs Adrian Hill Chris Holmes Malcolm Howard Linda Hughes Peter Humburg David Johnson Fredrik Karpe Zoya Kingsbury Usha Kini Julian C Knight Jonathan Krohn Sarah Lamble Craig Langman Lorne Lonie Joshua Luck Davis McCarthy Simon J McGowan Mary Frances McMullin Kerry A Miller Lisa Murray Andrea H Németh M Andrew Nesbit David Nutt Elizabeth Ormondroyd Annette Bang Oturai Alistair Pagnamenta Smita Y Patel Melanie Percy Nayia Petousi Paolo Piazza Sian E Piret Guadalupe Polanco-Echeverry Niko Popitsch Fiona Powrie Chris Pugh Lynn Quek Peter A Robbins Kathryn Robson Alexandra Russo Natasha Sahgal Pauline A van Schouwenburg Anna Schuh Earl Silverman Alison Simmons Per Soelberg Sørensen Elizabeth Sweeney John Taylor Rajesh V Thakker Ian Tomlinson Amy Trebes Stephen Rf Twigg Holm H Uhlig Paresh Vyas Tim Vyse Steven A Wall Hugh Watkins Michael P Whyte Lorna Witty Ben Wright Chris Yau David Buck Sean Humphray Peter J Ratcliffe John I Bell Andrew Om Wilkie David Bentley Peter Donnelly Gilean McVean

Nat Genet 2015 Jul 18;47(7):717-726. Epub 2015 May 18.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.3304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601524PMC
July 2015

Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.

Bone 2015 Jun 27;75:229-39. Epub 2015 Feb 27.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO 63131, USA; Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO 63110, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S87563282150006
Publisher Site
http://dx.doi.org/10.1016/j.bone.2015.02.022DOI Listing
June 2015

Response to: A rapid skeletal turnover in radiographic mimic of osteopetrosis might be secondary to systemic mastocytosis.

J Bone Miner Res 2015 May;30(5):946

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO,, USA; Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO,, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.2455DOI Listing
May 2015

Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1.

J Bone Miner Res 2015 Apr;30(4):606-14

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO; Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.2398DOI Listing
April 2015

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.

J Bone Miner Res 2015 Jan;30(1):137-43

Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO, USA; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.2307DOI Listing
January 2015

Rapid skeletal turnover in a radiographic mimic of osteopetrosis.

J Bone Miner Res 2014 Dec;29(12):2601-9

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO, USA; Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.2289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4391634PMC
December 2014

Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK.

Bone 2014 Nov 23;68:153-61. Epub 2014 Jul 23.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO 63131, USA,; Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO 63110, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2014.07.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4189967PMC
November 2014

Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.

Am J Med Genet A 2014 Sep 2;164A(9):2287-93. Epub 2014 Jul 2.

Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, Missouri; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, Missouri.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36641DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4505615PMC
September 2014

Panostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANK.

J Bone Miner Res 2014 Apr;29(4):911-21

Department of Medicine, University of California, San Francisco, CA, USA; Endocrine Research Unit, Department of Veterans Affairs Medical Center, San Francisco, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.2094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4419358PMC
April 2014

Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sisters.

J Bone Miner Res 2014 Apr;29(4):929-34

Metabolic Bone Diseases Unit, Department of Rheumatology, Hospital Clinic, IDIBAPS, CIBERehd, University of Barcelona, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.2110DOI Listing
April 2014

Acute severe hypercalcemia after traumatic fractures and immobilization in hypophosphatasia complicated by chronic renal failure.

J Clin Endocrinol Metab 2013 Dec 24;98(12):4606-12. Epub 2013 Sep 24.

MD, Shriners Hospital for Children, 2001 South Lindbergh Boulevard, St Louis, MO 63131.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2013-1811DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6287393PMC
December 2013

Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis.

JIMD Rep 2013 12;11:73-8. Epub 2013 Apr 12.

Manitoba Institute of Child Health and Department of Pediatrics and Child Health, University of Manitoba, AE308 - 820 Sherbrook St, R3A 1R9, Winnipeg, Manitoba, Canada,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2013_224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755555PMC
August 2013

Juvenile paget's disease in an Iranian kindred with vitamin D deficiency and novel homozygous TNFRSF11B mutation.

J Bone Miner Res 2013 Jun;28(6):1501-8

Department of Pediatric Endocrinology, Namazi Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.1868DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663917PMC
June 2013

Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy.

J Bone Miner Res 2013 Feb;28(2):419-30

Medical Scientist Training Program, Washington University School of Medicine, St. Louis, MO, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.1752DOI Listing
February 2013

Dual-energy X-ray absorptiometry interpretation: a simple equation for height correction in preteenage children.

J Clin Densitom 2012 Jul-Sep;15(3):267-74. Epub 2012 Mar 16.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO, USA.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10946950120000
Publisher Site
http://dx.doi.org/10.1016/j.jocd.2012.01.004DOI Listing
September 2012

Pathogenesis of lumbar spine disease in mucopolysaccharidosis VII.

Mol Genet Metab 2012 Sep 30;107(1-2):153-60. Epub 2012 Mar 30.

Department of Orthopaedic Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2012.03.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428127PMC
September 2012

Resorptive hypercalcemia in post-essential thrombocythemia myelofibrosis: treatment with denosumab.

J Clin Endocrinol Metab 2012 Sep 22;97(9):3051-5. Epub 2012 Jun 22.

Department of Endocrinology and Diabetes, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
Publisher Site
http://dx.doi.org/10.1210/jc.2012-1792DOI Listing
September 2012

Enzyme replacement prevents enamel defects in hypophosphatasia mice.

J Bone Miner Res 2012 Aug;27(8):1722-34

Sanford Children's Health Research Center, Sanford-Burnham Medical Research Institute, La Jolla, CA 92037, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.1619DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3395779PMC
August 2012

Idiopathic multicentric osteolysis: upper extremity manifestations and surgical considerations during childhood.

J Hand Surg Am 2012 Aug 2;37(8):1677-83. Epub 2012 Jul 2.

Department of Orthopaedic Surgery, Washington University School of Medicine, St Louis, MO, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jhsa.2012.05.001DOI Listing
August 2012

"Atypical femoral fractures" during bisphosphonate exposure in adult hypophosphatasia.

J Bone Miner Res 2012 May;27(5):987-94

Osteoporosis Program, Women's Health Centre, University of British Columbia, Vancouver, BC, Canada.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/jbmr.1565
Publisher Site
http://dx.doi.org/10.1002/jbmr.1565DOI Listing
May 2012

Fibrodysplasia ossificans progressiva: middle-age onset of heterotopic ossification from a unique missense mutation (c.974G>C, p.G325A) in ACVR1.

J Bone Miner Res 2012 Mar;27(3):729-37

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO 63131, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.1473DOI Listing
March 2012

Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review).

J Bone Miner Res 2011 Oct;26(10):2389-98

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St Louis, MO 63131-3597, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.454DOI Listing
October 2011

Dose response of bone-targeted enzyme replacement for murine hypophosphatasia.

Bone 2011 Aug 31;49(2):250-6. Epub 2011 Mar 31.

Sanford Children's Health Research Center, Sanford-Burnham Medical Research Institute, La Jolla, CA 92037, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2011.03.770DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3117961PMC
August 2011

Skeletal fluorosis from brewed tea.

J Clin Endocrinol Metab 2011 Aug 18;96(8):2318-24. Epub 2011 May 18.

Division of Endocrinology, Department of Medicine,Emory University, School of Medicine, Atlanta, Georgia 3032, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2010-2891DOI Listing
August 2011

Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders.

J Bone Miner Res 2010 Nov;25(11):2515-26

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St Louis, MO 63131-3597, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/jbmr.130
Publisher Site
http://dx.doi.org/10.1002/jbmr.130DOI Listing
November 2010

Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3.

J Clin Endocrinol Metab 2010 Apr 4;95(4):1947-54. Epub 2010 Feb 4.

Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Churchill Hospital, Headington, Oxford OX3 7LJ, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2009-2152DOI Listing
April 2010

2009 Santa Fe Bone symposium.

J Clin Densitom 2010 Jan-Mar;13(1):1-9

Washington University School of Medicine, St. Louis, MO, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jocd.2009.12.003DOI Listing
April 2010

Physiological role of alkaline phosphatase explored in hypophosphatasia.

Authors:
Michael P Whyte

Ann N Y Acad Sci 2010 Mar;1192:190-200

Shriners Hospital for Children, St. Louis, Missouri, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1749-6632.2010.05387.xDOI Listing
March 2010

Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family.

Arch Dermatol 2010 Jan;146(1):63-8

Division of Dermatology, Department of Medicine, Children's Hospital at Montefiore Medical Center, Albert Einstein College of Medicine, 111 E 210th St, Bronx, NY 10467, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archdermatol.2009.320DOI Listing
January 2010

Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia.

Authors:
Michael P Whyte

J Bone Miner Res 2009 Jun;24(6):1132-4

Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital, and Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, Missouri, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1359/jbmr.081253DOI Listing
June 2009

Bisphosphonate-induced osteopetrosis: novel bone modeling defects, metaphyseal osteopenia, and osteosclerosis fractures after drug exposure ceases.

J Bone Miner Res 2008 Oct;23(10):1698-707

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, Missouri 63131-3597, USA.

View Article

Download full-text PDF

Source
http://www.pedrad.org/Portals/5/Events/2008/Osteopetrosis.pd
Web Search
http://doi.wiley.com/10.1359/jbmr.080511
Publisher Site
http://dx.doi.org/10.1359/jbmr.080511DOI Listing
October 2008

Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.

J Clin Endocrinol Metab 2008 Sep 17;93(9):3443-8. Epub 2008 Jun 17.

Division of Medical Genetics, Department of Pediatrics, 2C412 SOM, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA.

View Article

Download full-text PDF

Source
https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
Publisher Site
http://dx.doi.org/10.1210/jc.2008-0318DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567856PMC
September 2008

Skeletal fluorosis from instant tea.

J Bone Miner Res 2008 May;23(5):759-69

Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital, St Louis, Missouri, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1359/jbmr.080101DOI Listing
May 2008

Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathy.

Clin Orthop Relat Res 2007 Sep;462:80-6

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, MO, USA.

View Article

Download full-text PDF

Source
https://insights.ovid.com/crossref?an=00003086-200709000-000
Publisher Site
http://dx.doi.org/10.1097/BLO.0b013e3180d09db8DOI Listing
September 2007

Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts.

J Clin Endocrinol Metab 2007 Aug 22;92(8):2923-30. Epub 2007 May 22.

Pediatric Research Institute, Cardinal Glennon Children's Hospitals, St. Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2006-2131DOI Listing
August 2007

Sporadic hyperphosphatasia syndrome featuring periostitis and accelerated skeletal turnover without receptor activator of nuclear factor-kappaB, osteoprotegerin, or sequestosome-1 gene defects.

J Clin Endocrinol Metab 2007 May 6;92(5):1897-901. Epub 2007 Feb 6.

Department of Endocrinology/Diabetes Center, VU University Medical Center, P.O. Box 7057, Boelelaan 1117, 1007 MB Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
Publisher Site
http://dx.doi.org/10.1210/jc.2006-0479DOI Listing
May 2007

Adult hypophosphatasia treated with teriparatide.

J Clin Endocrinol Metab 2007 Apr 9;92(4):1203-8. Epub 2007 Jan 9.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, and Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MI 63131-3597, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2006-1902DOI Listing
April 2007

Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood.

Endocr Pract 2006 Nov-Dec;12(6):676-81

Division of Endocrinology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4158/EP.12.6.676DOI Listing
March 2007

Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis.

J Bone Miner Res 2007 Feb;22(2):243-50

Washington University School of Medicine, St Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1359/jbmr.061102DOI Listing
February 2007

Recovery from skeletal fluorosis (an enigmatic, American case).

J Bone Miner Res 2007 Jan;22(1):163-70

Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1359/jbmr.060912DOI Listing
January 2007

Clinical practice. Paget's disease of bone.

Authors:
Michael P Whyte

N Engl J Med 2006 Aug;355(6):593-600

Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital, and the Center for Metabolic Bone Disease and Molecular Research, St. Louis, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMcp060278DOI Listing
August 2006

Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling.

Authors:
Michael P Whyte

Ann N Y Acad Sci 2006 Apr;1068:143-64

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, 2001 South Lindbergh Boulevard, St. Louis, MO 63131, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1196/annals.1346.016DOI Listing
April 2006