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Results: 1 to 20 of 47

Select item 230392661.

A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia.

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

FEBS J. 2012 Dec;279(23):4327-37. doi: 10.1111/febs.12022. Epub 2012 Oct 30.

PMID:: 23039266; [PubMed - indexed for MEDLINE]

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Select item 227036522.

Hypophosphatasia-associated deficiencies in mineralization and gene expression in cultured dental pulp cells obtained from human teeth.

Rodrigues TL, Foster BL, Silverio KG, Martins L, Casati MZ, Sallum EA, Somerman MJ, Nociti FH Jr.

J Endod. 2012 Jul;38(7):907-12. doi: 10.1016/j.joen.2012.02.008. Epub 2012 Mar 29.

PMID:: 22703652; [PubMed - indexed for MEDLINE]

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Select item 224612243.

Enzyme replacement prevents enamel defects in hypophosphatasia mice.

Yadav MC, de Oliveira RC, Foster BL, Fong H, Cory E, Narisawa S, Sah RL, Somerman M, Whyte MP, Millán JL.

J Bone Miner Res. 2012 Aug;27(8):1722-34. doi: 10.1002/jbmr.1619.

PMID:: 22461224; [PubMed - indexed for MEDLINE]

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Select item 223976524.

Enzyme-replacement therapy in life-threatening hypophosphatasia.

Whyte MP, Greenberg CR, Salman NJ, Bober MB, McAlister WH, Wenkert D, Van Sickle BJ, Simmons JH, Edgar TS, Bauer ML, Hamdan MA, Bishop N, Lutz RE, McGinn M, Craig S, Moore JN, Taylor JW, Cleveland RH, Cranley WR, Lim R, Thacher TD, Mayhew JE, Downs M, Millán JL, Skrinar AM, Crine P, Landy H.

N Engl J Med. 2012 Mar 8;366(10):904-13. doi: 10.1056/NEJMoa1106173.

PMID:: 22397652; [PubMed - indexed for MEDLINE]

Free Article

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Select item 223947035.

Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report.

Demirbilek H, Alanay Y, Alikaşifoğlu A, Topçu M, Mornet E, Gönç N, Özön A, Kandemir N.

J Clin Res Pediatr Endocrinol. 2012 Mar;4(1):34-8. doi: 10.4274/jcrpe.473.

PMID:: 22394703; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 223285486.

Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy.

Rodriguez E, Bober MB, Davey L, Zamora A, Li Puma AB, Chidekel A, Shaffer TH.

Pediatr Pulmonol. 2012 Sep;47(9):917-22. doi: 10.1002/ppul.22527. Epub 2012 Feb 10.

PMID:: 22328548; [PubMed - indexed for MEDLINE]

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Select item 223225417.

"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.

PMID:: 22322541; [PubMed - indexed for MEDLINE]

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Select item 223006808.

Identification of the mutations in the tissue-nonspecific alkaline phosphatase gene in two Chinese families with hypophosphatasia.

Zhang H, Ke YH, Wang C, Yue H, Hu WW, Gu JM, Zhang ZL.

Arch Med Res. 2012 Jan;43(1):21-30. doi: 10.1016/j.arcmed.2012.01.004. Epub 2012 Jan 31.

PMID:: 22300680; [PubMed - indexed for MEDLINE]

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Select item 222661409.

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.

PMID:: 22266140; [PubMed - indexed for MEDLINE]

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Select item 2221856310.

Failure of teriparatide in treatment of bone complications of adult hypophosphatasia.

Laroche M.

Calcif Tissue Int. 2012 Mar;90(3):250. doi: 10.1007/s00223-011-9562-5. Epub 2012 Jan 5. No abstract available.

PMID:: 22218563; [PubMed - indexed for MEDLINE]

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Select item 2216738011.

Adult hypophosphatasia with painful periarticular calcification treated with surgical resection.

Iida K, Fukushi J, Fujiwara T, Oda Y, Iwamoto Y.

J Bone Miner Metab. 2012 Nov;30(6):722-5. doi: 10.1007/s00774-011-0338-9. Epub 2011 Dec 15.

PMID:: 22167380; [PubMed - indexed for MEDLINE]

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Select item 2201417412.

Correction of hypophosphatasia-associated mineralization deficiencies in vitro by phosphate/pyrophosphate modulation in periodontal ligament cells.

Rodrigues TL, Foster BL, Silverio KG, Martins L, Casati MZ, Sallum EA, Somerman MJ, Nociti FH Jr.

J Periodontol. 2012 May;83(5):653-63. doi: 10.1902/jop.2011.110310. Epub 2011 Oct 20.

PMID:: 22014174; [PubMed - indexed for MEDLINE]

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Select item 2171398713.

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.

PMID:: 21713987; [PubMed - indexed for MEDLINE]

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Select item 2163801614.

Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia.

Chang KC, Lin PH, Su YN, Peng SS, Lee NC, Chou HC, Chen CY, Hsieh WS, Tsao PN.

J Bone Miner Metab. 2012 Jan;30(1):109-13. doi: 10.1007/s00774-011-0282-8. Epub 2011 Jun 4.

PMID:: 21638016; [PubMed - indexed for MEDLINE]

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Select item 2148885515.

A molecular-based estimation of the prevalence of hypophosphatasia in the European population.

Mornet E, Yvard A, Taillandier A, Fauvert D, Simon-Bouy B.

Ann Hum Genet. 2011 May;75(3):439-45. doi: 10.1111/j.1469-1809.2011.00642.x. Epub 2011 Mar 24.

PMID:: 21488855; [PubMed - indexed for MEDLINE]

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Select item 2138834316.

Rescue of severe infantile hypophosphatasia mice by AAV-mediated sustained expression of soluble alkaline phosphatase.

Matsumoto T, Miyake K, Yamamoto S, Orimo H, Miyake N, Odagaki Y, Adachi K, Iijima O, Narisawa S, Millán JL, Fukunaga Y, Shimada T.

Hum Gene Ther. 2011 Nov;22(11):1355-64. doi: 10.1089/hum.2010.210. Epub 2011 Jun 8.

PMID:: 21388343; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2134225117.

Hypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment.

Mohn A, De Leonibus C, de Giorgis T, Mornet E, Chiarelli F.

Acta Paediatr. 2011 Jul;100(7):e43-6. doi: 10.1111/j.1651-2227.2011.02228.x. Epub 2011 Mar 17.

PMID:: 21342251; [PubMed - indexed for MEDLINE]

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Select item 2130786018.

Hypophosphatasia now draws more attention of both clinicians and researchers: a commentary on Prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers.

Ozono K, Michigami T.

J Hum Genet. 2011 Mar;56(3):174-6. doi: 10.1038/jhg.2011.6. Epub 2011 Feb 10. No abstract available.

PMID:: 21307860; [PubMed - indexed for MEDLINE]

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Select item 2126754519.

Skeletal mineralization defects in adult hypophosphatasia--a clinical and histological analysis.

Barvencik F, Beil FT, Gebauer M, Busse B, Koehne T, Seitz S, Zustin J, Pogoda P, Schinke T, Amling M.

Osteoporos Int. 2011 Oct;22(10):2667-75. doi: 10.1007/s00198-011-1528-y. Epub 2011 Jan 26.

PMID:: 21267545; [PubMed - indexed for MEDLINE]

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Select item 2121231320.

Enzyme replacement therapy prevents dental defects in a model of hypophosphatasia.

McKee MD, Nakano Y, Masica DL, Gray JJ, Lemire I, Heft R, Whyte MP, Crine P, Millán JL.

J Dent Res. 2011 Apr;90(4):470-6. doi: 10.1177/0022034510393517. Epub 2011 Jan 6.

PMID:: 21212313; [PubMed - indexed for MEDLINE]

Free PMC Article

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Supplemental Content

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8 free full-text articles in PubMed Central

Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report. [J Clin Res Pediatr Endocrinol....]
Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report.
Demirbilek H, Alanay Y, Alikaşifoğlu A, Topçu M, Mornet E, Gönç N, Özön A, Kandemir N. J Clin Res Pediatr Endocrinol. 2012 Mar; 4(1):34-8.
Rescue of severe infantile hypophosphatasia mice by AAV-mediated sustained expression of soluble alkaline phosphatase. [Hum Gene Ther. 2011]
Rescue of severe infantile hypophosphatasia mice by AAV-mediated sustained expression of soluble alkaline phosphatase.
Matsumoto T, Miyake K, Yamamoto S, Orimo H, Miyake N, Odagaki Y, Adachi K, Iijima O, Narisawa S, Millán JL, et al. Hum Gene Ther. 2011 Nov; 22(11):1355-64. Epub 2011 Jun 8.
Enzyme replacement therapy prevents dental defects in a model of hypophosphatasia. [J Dent Res. 2011]
Enzyme replacement therapy prevents dental defects in a model of hypophosphatasia.
McKee MD, Nakano Y, Masica DL, Gray JJ, Lemire I, Heft R, Whyte MP, Crine P, Millán JL. J Dent Res. 2011 Apr; 90(4):470-6. Epub 2011 Jan 6.

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