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Severe cleidocranial dysplasia can mimic hypophosphatasia.
Unger S, Mornet E, Mundlos S, Blaser S, Cole DE. Unger S, et al. Among authors: mornet e. Eur J Pediatr. 2002 Nov;161(11):623-6. doi: 10.1007/s00431-002-0978-9. Epub 2002 Jun 28. Eur J Pediatr. 2002. PMID: 12424591
Hypophosphatasia may lead to bone fragility: don't miss it.
Moulin P, Vaysse F, Bieth E, Mornet E, Gennero I, Dalicieux-Laurencin S, Baunin C, Tauber MT, De Gauzy JS, Salles JP. Moulin P, et al. Among authors: mornet e. Eur J Pediatr. 2009 Jul;168(7):783-8. doi: 10.1007/s00431-008-0835-6. Epub 2008 Sep 26. Eur J Pediatr. 2009. PMID: 18818947
Utility of genetic testing for prenatal presentations of hypophosphatasia.
Sperelakis-Beedham B, Taillandier A, Domingues C, Guberto M, Colin E, Porquet-Bordes V, Rothenbuhler A, Salles JP, Wenkert D, Zankl A, Muti C, Bacrot S, Simon-Bouy B, Mornet E. Sperelakis-Beedham B, et al. Among authors: mornet e. Mol Genet Metab. 2021 Mar;132(3):198-203. doi: 10.1016/j.ymgme.2021.01.009. Epub 2021 Jan 27. Mol Genet Metab. 2021. PMID: 33549410
Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability.
Balasubramaniam S, Bowling F, Carpenter K, Earl J, Chaitow J, Pitt J, Mornet E, Sillence D, Ellaway C. Balasubramaniam S, et al. Among authors: mornet e. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S25-33. doi: 10.1007/s10545-009-9012-y. Epub 2010 Jan 5. J Inherit Metab Dis. 2010. PMID: 20049532
Hypophosphatasia.
Mornet E. Mornet E. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):113-27. doi: 10.1016/j.berh.2007.11.003. Best Pract Res Clin Rheumatol. 2008. PMID: 18328985 Review.
Characterization of a family with dominant hypophosphatasia.
Hu JC, Plaetke R, Mornet E, Zhang C, Sun X, Thomas HF, Simmer JP. Hu JC, et al. Among authors: mornet e. Eur J Oral Sci. 2000 Jun;108(3):189-94. doi: 10.1034/j.1600-0722.2000.108003189.x. Eur J Oral Sci. 2000. PMID: 10872988
132 results