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Items: 1 to 20 of 112

1.

[Rickets-like genetic diseases].

Ma HW.

Zhongguo Dang Dai Er Ke Za Zhi. 2013 Nov;15(11):923-7. Review. Chinese.

2.

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
3.

Clinical responses to a mega-dose of vitamin D3 in infants and toddlers with vitamin D deficiency rickets.

Soliman AT, El-Dabbagh M, Adel A, Al Ali M, Aziz Bedair EM, Elalaily RK.

J Trop Pediatr. 2010 Feb;56(1):19-26. doi: 10.1093/tropej/fmp040. Epub 2009 Jun 8.

PMID:
19506025
4.

X-linked hypophosphatemic rickets: case report.

Radlović V, Smoljanić Z, Radlović N, Leković Z, Ristić D, Ducić S, Pavićević P.

Srp Arh Celok Lek. 2014 Jan-Feb;142(1-2):75-8.

5.

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, Smahi A.

Hum Mutat. 2011 Jan;32(1):70-2. doi: 10.1002/humu.21384.

PMID:
20979233
6.

[Congenital hypophosphatasia].

Terheggen HG, Wischermann A.

Monatsschr Kinderheilkd. 1984 Jul;132(7):512-22. German.

PMID:
6147751
7.

[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
8.

Vitamin D metabolism in hypophosphatasia.

Opshaug O, Maurseth K, Howlid H, Aksnes L, Aarskog D.

Acta Paediatr Scand. 1982 May;71(3):517-21.

PMID:
6291316
9.

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
10.

Predisposition to vitamin D deficiency osteomalacia and rickets in females is linked to their 25(OH)D and calcium intake rather than vitamin D receptor gene polymorphism.

Ray D, Goswami R, Gupta N, Tomar N, Singh N, Sreenivas V.

Clin Endocrinol (Oxf). 2009 Sep;71(3):334-40. doi: 10.1111/j.1365-2265.2008.03500.x.

PMID:
19094076
11.

A single case of hypophosphatemic rickets with hypercalciuria.

Nishiyama S, Inoue F, Matsuda I.

J Pediatr Gastroenterol Nutr. 1986 Sep-Oct;5(5):826-9.

PMID:
3761117
12.

Severe nutritional deficiencies in toddlers resulting from health food milk alternatives.

Carvalho NF, Kenney RD, Carrington PH, Hall DE.

Pediatrics. 2001 Apr;107(4):E46.

PMID:
11335767
13.

Rickets: not a disease of the past.

Nield LS, Mahajan P, Joshi A, Kamat D.

Am Fam Physician. 2006 Aug 15;74(4):619-26. Review.

14.
15.
16.

Genetic advances, biochemical and clinical features and critical approach to treatment of patients with X-linked hypophosphatemic rickets.

Baroncelli GI, Bertelloni S, Sodini F, Galli L, Vanacore T, Fiore L, Saggese G.

Pediatr Endocrinol Rev. 2004 Jun;1(4):361-79. Review.

PMID:
16437029
17.

[Gene mutation analysis of X-linked hypophosphatemic rickets].

Song Y, Ma HW, Li F, Hu M, Ren S, Yu YF, Zhao GJ.

Zhongguo Dang Dai Er Ke Za Zhi. 2013 Nov;15(11):928-31. Chinese.

PMID:
24229582
18.

Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases.

Chassaing N, Cluzeau C, Bal E, Guigue P, Vincent MC, Viot G, Ginisty D, Munnich A, Smahi A, Calvas P.

Br J Dermatol. 2010 May;162(5):1044-8. doi: 10.1111/j.1365-2133.2010.09670.x. Epub 2010 Mar 5.

PMID:
20222921
19.

Treatment of Hypophosphatemic Rickets with Phosphate and Active Vitamin D in Japan: A Questionnaire-based Survey.

Fujiwara M, Namba N, Ozono K, Arisaka O, Yokoya S; Committee on Drugs, Japanese Society for Pediatric Endocrinology*.

Clin Pediatr Endocrinol. 2013 Jan;22(1):9-14. doi: 10.1292/cpe.22.. Epub 2013 Feb 7.

20.

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.

van der Hout AH, Oudesluijs GG, Venema A, Verheij JB, Mol BG, Rump P, Brunner HG, Vos YJ, van Essen AJ.

Eur J Hum Genet. 2008 Jun;16(6):673-9. doi: 10.1038/sj.ejhg.5202012. Epub 2008 Jan 30.

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