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Results: 1 to 20 of 97

1.

Childhood hypophosphatasia with myopathy: clinical report with recent update.

Silva I, Castelão W, Mateus M, Branco JC.

Acta Reumatol Port. 2012 Jan-Mar;37(1):92-6. Review.

PMID:
22781519
[PubMed - indexed for MEDLINE]
Free Article
2.

[Hypophosphatasia: report of two affected girls with spontaneous improvement of skeletal defects].

Ligutić I, Barisić I, Anticević D, Vrdoljak J.

Lijec Vjesn. 2005 Nov-Dec;127(11-12):288-92. Croatian.

PMID:
16583935
[PubMed - indexed for MEDLINE]
3.

Hypophosphatasia.

Mornet E.

Orphanet J Rare Dis. 2007 Oct 4;2:40. Review.

PMID:
17916236
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

[Childhood hypophosphatasia: a case report due to a novel mutation].

Draguet C, Gillerot Y, Mornet E.

Arch Pediatr. 2004 May;11(5):440-3. French.

PMID:
15135428
[PubMed - indexed for MEDLINE]
5.

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

Khandwala HM, Mumm S, Whyte MP.

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

PMID:
17229666
[PubMed - indexed for MEDLINE]
6.

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]
7.

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]
8.

Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene.

Taillandier A, Sallinen SL, Brun-Heath I, De Mazancourt P, Serre JL, Mornet E.

J Clin Endocrinol Metab. 2005 Apr;90(4):2436-9. Epub 2005 Jan 25.

PMID:
15671102
[PubMed - indexed for MEDLINE]
9.

"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]
10.

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
[PubMed - indexed for MEDLINE]
11.

Hypophosphatasia in Taiwan: report of two cases.

Chou YY, Ou HY, Wu TJ, Tsai SC, Lin SJ, Yu EH.

Kaohsiung J Med Sci. 2005 Mar;21(3):134-7.

PMID:
15875439
[PubMed - indexed for MEDLINE]
12.

Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred.

Whyte MP, Murphy WA, Fallon MD.

Am J Med. 1982 Apr;72(4):631-41.

PMID:
7072744
[PubMed - indexed for MEDLINE]
13.

Neonatal hypophosphatasia and seizures. A case report.

Smilari P, Romeo DM, Palazzo P, Meli C, Sorge G.

Minerva Pediatr. 2005 Oct;57(5):319-23.

PMID:
16205618
[PubMed - indexed for MEDLINE]
14.

Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.

Stoll C, Fischbach M, Terzic J, Alembik Y, Vuillemin MO, Mornet E.

Genet Couns. 2002;13(3):289-95.

PMID:
12416636
[PubMed - indexed for MEDLINE]
15.

Myopathy with hypophosphatasia.

Seshia SS, Derbyshire G, Haworth JC, Hoogstraten J.

Arch Dis Child. 1990 Jan;65(1):130-1.

PMID:
2301976
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Hypophosphatasia.

Mornet E.

Best Pract Res Clin Rheumatol. 2008 Mar;22(1):113-27. doi: 10.1016/j.berh.2007.11.003. Review.

PMID:
18328985
[PubMed - indexed for MEDLINE]
17.

Hypophosphatasia: diagnostic application of linked DNA markers in the dominantly inherited adult form.

Iqbal SJ, Plaha DS, Linforth GH, Dalgleish R.

Clin Sci (Lond). 1999 Jul;97(1):73-8.

PMID:
10369796
[PubMed - indexed for MEDLINE]
Free Article
18.

Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy.

Girschick HJ, Mornet E, Beer M, Warmuth-Metz M, Schneider P.

BMC Pediatr. 2007 Jan 23;7:3.

PMID:
17241478
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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
[PubMed - indexed for MEDLINE]
20.

Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.

Morava E, Kárteszi J, Weisenbach J, Caliebe A, Mundlos S, Méhes K.

Eur J Pediatr. 2002 Nov;161(11):619-22. Epub 2002 Oct 9.

PMID:
12424590
[PubMed - indexed for MEDLINE]

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