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Items: 1 to 20 of 155

1.

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

Sutton RA, Mumm S, Coburn SP, Ericson KL, Whyte MP.

J Bone Miner Res. 2012 May;27(5):987-94. doi: 10.1002/jbmr.1565.

2.

Adult hypophosphatasia treated with teriparatide.

Whyte MP, Mumm S, Deal C.

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

PMID:
17213282
3.

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

Guañabens N, Mumm S, Möller I, González-Roca E, Peris P, Demertzis JL, Whyte MP.

J Bone Miner Res. 2014 Apr;29(4):929-34. doi: 10.1002/jbmr.2110.

4.

Atypical femoral fracture in a 51-year-old woman: Revealing a hypophosphatasia.

Maman E, Briot K, Roux C.

Joint Bone Spine. 2016 May;83(3):346-8. doi: 10.1016/j.jbspin.2015.10.009. Epub 2016 Mar 15.

PMID:
26992955
5.

Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia.

Whyte MP, Wenkert D, McAlister WH, Mughal MZ, Freemont AJ, Whitehouse R, Baildam EM, Coburn SP, Ryan LM, Mumm S.

J Bone Miner Res. 2009 Aug;24(8):1493-505. doi: 10.1359/jbmr.090308.

6.

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

Wenkert D, McAlister WH, Coburn SP, Zerega JA, Ryan LM, Ericson KL, Hersh JH, Mumm S, Whyte MP.

J Bone Miner Res. 2011 Oct;26(10):2389-98. doi: 10.1002/jbmr.454. Review.

7.
8.

Physiological role of alkaline phosphatase explored in hypophosphatasia.

Whyte MP.

Ann N Y Acad Sci. 2010 Mar;1192:190-200. doi: 10.1111/j.1749-6632.2010.05387.x. Review.

PMID:
20392236
9.

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

Whyte MP, Zhang F, Wenkert D, McAlister WH, Mack KE, Benigno MC, Coburn SP, Wagy S, Griffin DM, Ericson KL, Mumm S.

Bone. 2015 Jun;75:229-39. doi: 10.1016/j.bone.2015.02.022. Epub 2015 Feb 27.

PMID:
25731960
10.

Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene.

Baumgartner-Sigl S, Haberlandt E, Mumm S, Scholl-Bürgi S, Sergi C, Ryan L, Ericson KL, Whyte MP, Högler W.

Bone. 2007 Jun;40(6):1655-61. Epub 2007 Feb 14.

PMID:
17395561
11.

Novel mouse model of autosomal semidominant adult hypophosphatasia has a splice site mutation in the tissue nonspecific alkaline phosphatase gene Akp2.

Hough TA, Polewski M, Johnson K, Cheeseman M, Nolan PM, Vizor L, Rastan S, Boyde A, Pritzker K, Hunter AJ, Fisher EM, Terkeltaub R, Brown SD.

J Bone Miner Res. 2007 Sep;22(9):1397-407.

12.

Lack of sustained response to teriparatide in a patient with adult hypophosphatasia.

Gagnon C, Sims NA, Mumm S, McAuley SA, Jung C, Poulton IJ, Ng KW, Ebeling PR.

J Clin Endocrinol Metab. 2010 Mar;95(3):1007-12. doi: 10.1210/jc.2009-1965. Epub 2010 Jan 20.

PMID:
20089612
13.

Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.

Mumm S, Jones J, Finnegan P, Henthorn PS, Podgornik MN, Whyte MP.

Mol Genet Metab. 2002 Feb;75(2):143-53.

PMID:
11855933
15.

Disulfide bonds are critical for tissue-nonspecific alkaline phosphatase function revealed by analysis of mutant proteins bearing a C(201)-Y or C(489)-S substitution associated with severe hypophosphatasia.

Satou Y, Al-Shawafi HA, Sultana S, Makita S, Sohda M, Oda K.

Biochim Biophys Acta. 2012 Apr;1822(4):581-8. doi: 10.1016/j.bbadis.2012.01.007. Epub 2012 Jan 14.

16.

[Tissue-nonspecific alkaline phosphatase and hypophosphatasia].

Oda K, Kinjoh NN, Sohda M, Komaru K, Amizuka N.

Clin Calcium. 2014 Feb;24(2):233-9. doi: CliCa1402233239. Review. Japanese.

PMID:
24473356
17.

Enzyme replacement therapy on hypophosphatasia mouse model.

Oikawa H, Tomatsu S, Haupt B, Montaño AM, Shimada T, Sly WS.

J Inherit Metab Dis. 2014 Mar;37(2):309-17. doi: 10.1007/s10545-013-9646-7. Epub 2013 Aug 27.

18.

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

Whyte MP, Leelawattana R, Reinus WR, Yang C, Mumm S, Novack DV.

J Clin Endocrinol Metab. 2013 Dec;98(12):4606-12. doi: 10.1210/jc.2013-1811. Epub 2013 Sep 24.

PMID:
24064686
19.

ADULT HYPOPHOSPHATASIA TREATED WITH TERIPARATIDE: REPORT OF TWO PATIENTS AND REVIEW OF THE LITERATURE.

Camacho PM, Mazhari AM, Wilczynski C, Kadanoff R, Mumm S, Whyte MP.

Endocr Pract. 2016 Apr 4. [Epub ahead of print]

PMID:
27042741
20.

A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.

Watanabe H, Hashimoto-Uoshima M, Goseki-Sone M, Orimo H, Ishikawa I.

Oral Dis. 2001 Nov;7(6):331-5.

PMID:
11834095
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