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Results: 1 to 20 of 54

1.

Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia.

Silvent J, Gasse B, Mornet E, Sire JY.

J Biol Chem. 2014 Aug 29;289(35):24168-79. doi: 10.1074/jbc.M114.576843. Epub 2014 Jul 14.

PMID:
25023282
[PubMed - indexed for MEDLINE]
2.

Did Tutankhamun suffer from hypophosphatasia?--A hypothetical approach.

Brandt G.

Anthropol Anz. 2013;70(3):249-60.

PMID:
24466636
[PubMed - indexed for MEDLINE]
3.

Clinical and radiographic findings in adults with persistent hypophosphatasemia.

McKiernan FE, Berg RL, Fuehrer J.

J Bone Miner Res. 2014 Jul;29(7):1651-60. doi: 10.1002/jbmr.2178.

PMID:
24443354
[PubMed - indexed for MEDLINE]
4.

Perinatal hypophosphatasia caused by uniparental isodisomy.

Watanabe A, Satoh S, Fujita A, Naing BT, Orimo H, Shimada T.

Bone. 2014 Mar;60:93-7. doi: 10.1016/j.bone.2013.12.009. Epub 2013 Dec 12.

PMID:
24334170
[PubMed - indexed for MEDLINE]
5.

Clinical and genetic aspects of hypophosphatasia in Japanese patients.

Taketani T, Onigata K, Kobayashi H, Mushimoto Y, Fukuda S, Yamaguchi S.

Arch Dis Child. 2014 Mar;99(3):211-5. doi: 10.1136/archdischild-2013-305037. Epub 2013 Nov 25.

PMID:
24276437
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
24123110
[PubMed - indexed for MEDLINE]
7.

Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.

de Roo MG, Abeling NG, Majoie CB, Bosch AM, Koelman JH, Cobben JM, Duran M, Poll-The BT.

Mol Genet Metab. 2014 Mar;111(3):404-7. doi: 10.1016/j.ymgme.2013.09.014. Epub 2013 Sep 26.

PMID:
24100244
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

Characterization of six missense mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in Chinese children with hypophosphatasia.

Yang H, Wang L, Geng J, Yu T, Yao RE, Shen Y, Yin L, Ying D, Huang R, Zhou Y, Chen H, Liu L, Mo X, Shen Y, Fu Q, Yu Y.

Cell Physiol Biochem. 2013;32(3):635-44. doi: 10.1159/000354467. Epub 2013 Sep 10.

PMID:
24022022
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
23978959
[PubMed - indexed for MEDLINE]
11.

Clinical utility gene card for: hypophosphatasia - update 2013.

Mornet E, Hofmann C, Bloch-Zupan A, Girschick H, Le Merrer M.

Eur J Hum Genet. 2014 Apr;22(4). doi: 10.1038/ejhg.2013.177. Epub 2013 Aug 7. No abstract available.

PMID:
23921539
[PubMed - indexed for MEDLINE]
12.

Multisystemic functions of alkaline phosphatases.

Buchet R, Millán JL, Magne D.

Methods Mol Biol. 2013;1053:27-51. doi: 10.1007/978-1-62703-562-0_3. Review.

PMID:
23860646
[PubMed - indexed for MEDLINE]
13.

Hypophosphatasia.

Rockman-Greenberg C.

Pediatr Endocrinol Rev. 2013 Jun;10 Suppl 2:380-8. Review.

PMID:
23858621
[PubMed - indexed for MEDLINE]
14.

Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype.

Martins L, Rodrigues TL, Ribeiro MM, Saito MT, Giorgetti AP, Casati MZ, Sallum EA, Foster BL, Somerman MJ, Nociti FH Jr.

Bone. 2013 Oct;56(2):390-7. doi: 10.1016/j.bone.2013.06.010. Epub 2013 Jun 19.

PMID:
23791648
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Therapy-related Ph+ leukemia after both bone marrow and mesenchymal stem cell transplantation for hypophosphatasia.

Taketani T, Kanai R, Abe M, Mishima S, Tadokoro M, Katsube Y, Yuba S, Ogushi H, Fukuda S, Yamaguchi S.

Pediatr Int. 2013 Jun;55(3):e52-5. doi: 10.1111/ped.12012.

PMID:
23782379
[PubMed - indexed for MEDLINE]
16.

An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia.

Sultana S, Al-Shawafi HA, Makita S, Sohda M, Amizuka N, Takagi R, Oda K.

Mol Genet Metab. 2013 Jul;109(3):282-8. doi: 10.1016/j.ymgme.2013.04.016. Epub 2013 Apr 30.

PMID:
23688511
[PubMed - indexed for MEDLINE]
17.

Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia.

Hofmann C, Liese J, Schwarz T, Kunzmann S, Wirbelauer J, Nowak J, Hamann J, Girschick H, Graser S, Dietz K, Zeck S, Jakob F, Mentrup B.

Bone. 2013 Jul;55(1):150-7. doi: 10.1016/j.bone.2013.02.017. Epub 2013 Feb 27.

PMID:
23454488
[PubMed - indexed for MEDLINE]
18.

Clinical spectrum of hypophosphatasia diagnosed in adults.

Berkseth KE, Tebben PJ, Drake MT, Hefferan TE, Jewison DE, Wermers RA.

Bone. 2013 May;54(1):21-7. doi: 10.1016/j.bone.2013.01.024. Epub 2013 Jan 22.

PMID:
23352924
[PubMed - indexed for MEDLINE]
19.

Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia.

Haliloglu B, Guran T, Atay Z, Abali S, Mornet E, Bereket A, Turan S.

Eur J Pediatr. 2013 Jun;172(6):851-3. doi: 10.1007/s00431-012-1868-4. Epub 2012 Oct 24.

PMID:
23093139
[PubMed - indexed for MEDLINE]
20.

Phosphoethanolamine normal range in pediatric urines for hypophosphatasia screening.

Imbard A, Alberti C, Armoogum-Boizeau P, Ottolenghi C, Josserand E, Rigal O, Benoist JF.

Clin Chem Lab Med. 2012 Dec;50(12):2231-3. No abstract available.

PMID:
23093084
[PubMed - indexed for MEDLINE]
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