[1] Whyte MP.Hypophosphatasia:an overview for 2017[J].Bon e,2017,102:15-25.
[2] Mornet E,Yvard A,Taillandier A,et al.A molecular-based estimation of the prevalence of hypophosphatasia in the European population[J].Ann Hum Genet,2011,75(3):439-445.
[3] Mornet E.Genetics of hypophosphatasia[J].Arch Pediatr,2017,24(5S2):51-56.
[4] 伍金林,陈娟,丘力,等.新生儿磷酸酶过少症[J].中国当代儿科杂志,2008,6(3):301-303.
[5] 卢维城,石聪聪,蔡东,等.低碱性磷酸酶血症一家系临床与基因分析[J].临床儿科杂志,2017,9(9):682-686.
[6] Bishop N.Clinical management of hypophosphatasia[J].Clin Cases Miner Bone Metab,2015,12(2):170-173.
[7] Mornet E,Hofmann C,Bloch-zupan A,et al.Clinical utility gene card for:hypophosphatasia-update 2013[J].Eur J Hum Genet,2014,22(572):132-139.
[8] Michigami T,Uchihashi T,Suzuki A,et al.Common mutations f310l and t1559del in the tissue nonspecific alkaline phosphatase gene are related to distinct pheno-types in Japanese patients with hypophosphatasia[J].Eur J Pediatr,2005,64(13):277-282.
[9] Liu H,Li J,Lei H,et al.Genetic etiology and dental pulp cell deficiency of hypophosphatasia[J].J Dent Res,2010,89(12):1373-1377.
[10] Mornet E.Genetics of hypophosphatasia[J].Arch de Pédiat rie,2017,24(Suppl 5):51-56.
[11] Whyte MP,Zhang F,Wenkert D,et al.Hypophosphatasia:validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients[J].Bone,2014,75(9):229-239.
[12] Roo MGA.Infantile hypophosphatasia without bone defor mities presenting with severe pyridoxine-resistant seizures[J].Mol Genet Metab,2014,111(13):404-407.
[13] Taketani T.Clinical and genetic aspects of hypophosphatasia in Japanese patients[J].Arch Dis Child,2014,99(9):211-215.
[14] Matsushita M,Kitoh H,Michigami T,et al.Benign prenatal hypophosphatasia:a treatable disease not to be missed[J].Pediatr Radiol,2014,44(12):340-343.
[15] Whyte MP.Hypophosphatasia:validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients[J].Bone,2015,75(7):229-239.
[16] Bianchi ML.Hypophosphatasia:an overview of the disease and its treatment[J].Osteoporos Int,2015,26(12):2743-2757.
[17] Whyte MP.Hypophosphatasia-aetiology,nosology,pathoge nesis,diagnosis and treatment[J].Nat Rev Endocrinol,2016,12(15):233-246.
[18] Guanabens N,Blanch J,Martinez-Diaz-Guerra G,et al.Iden tification of hypophosphatasia in a clinical setting:Clinical manifestations and diagnostic recommendations in adult patients[J].Med Clin(Barc),2018,150(21):75-79.
[19] Kishnani PS,Rush ET,Arundel P,et al.Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa[J].Mol Genet Metab,2017,122(35):4-17.
[20] Guanabens N.Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sisters[J].J Bone Miner Res,2014,29(8):929-934.
[21] Girschick HJ.Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia[J].Orphanet J Rare Dis,2006,1(5):24-26.
[22] Whyte MP.Hypophosphatasia:enzyme replacement therapy brings new opportunities and new challenges[J].J Bone Miner Res,2017,32(4):667-675.
[23] Camacho PM,Mazhari AM,Wilczynski C,et al.Adult hypophosphatasia treated with teriparatide:report of 2 patients and review of the literature[J].Endocr Pract,2016,22(8):941-950.
[24] Bowden SA,Foster BL.Profile of asfotase alfa in the treatment of hypophosphatasia:design,development and place in therapy[J].Drug Des Devel Ther,2018,17(12):3147-3161.
[25] Kishnani PS,Rush ET,Arundel P,et al.Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa[J].Mol Genet Metab,2017,122(1-2):4-17. |
