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1Academic Journal
Συγγραφείς: P. V. Novikov, П. В. Новиков
Πηγή: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 60, № 1 (2015); 23-26 ; Российский вестник перинатологии и педиатрии; Том 60, № 1 (2015); 23-26 ; 2500-2228 ; 1027-4065 ; undefined
Θεματικοί όροι: асфотаза альфа, hypophosphatasia, monogenic diseases, alkalinephosphatase, pathogenetic therapy, enzyme replacement therapy, asfotase alfa, гипофосфатазия, моногенные болезни, щелочная фосфатаза, патогенетическое лечение, ферменто-заместителъная терапия
Περιγραφή αρχείου: application/pdf
Relation: https://www.ped-perinatology.ru/jour/article/view/81/125; Mornet E. Hypophosphatasia. Best Pract Res Clin Rheumatol 2008; 22: 113-127.; Orimo H., Goseki-Sone M., Sato P., Shimada T. Detection of deletion 1154—1156 hypophosphatasia mutation using TNSALP exon amplification. Genomics 1997; 42: 364-366.; Rathbun J.C. Hypophosphatasia; a new developmental anomaly. Am J Dis Child 1948; 75: 822-831.; Whyte M.P. Hypophosphatasia and the alkaline phosphatase in skeletal mineralization. Endocr Rev 1994; 15: 439—461.; Rasmussen H. Hypophosphatasia. In: Stanbury J.B., Wyn-gaarden J.B., Fredrickson D.S. et al. (eds.). The Metabolic Basis of Inherited Disease. 1983; 1497-1507.; Bixler D., Poland C, Brandt I.K., Nicholas N.J. Autosomal dominant hypophosphatasia without skeletal disease. Am J Hum Genet 1974; 26: 14A.; Greenberg C.R., Evans J.A., McKendy-Smith S. et al. Infantile Hypophosphatasia: localization within chromosome region Ip36.11-34 an prenatal diagnosis using linkage DNA-mar-kers. Amer J Yum Genet 1990; 46: 286-292.; Weiss M.J., Ray V., Henthorn PS. et al. Structure of the human liver /boneДidney alkaline phosphatase gene. J Biol Chem 1998; 263: 12002-12010.; Chodirker B.N., Evan J.A., Lewis M. et al. Infantile hypophosphatasia — linkage with the RH locus. Genomics 1987; 1: 3: 280-282.; Ukarapong S., Ganapathy S.S., Haidet J., Berkovitz G. Childhood Hypophosphatasia with Homozygous Mutation ofALPLGene. Endocr Pract 2014; 6: 1-9.; Mornet E. The tissue nonspecific alkaline phosphatase gene mutations database. At htttp://www.sesep.uvsq.fr/03_hypo-mutations.php. (Accessed 12 August 2010).; Silvent J., Gasse В., Mornet E., Sire J.Y. Molecular Evolution of the Tissue-nonspecific Alkaline Phosphatase Allows Prediction and Validation of Missense Mutations Responsible for Hypophosphatasia. J Biol Chem 2014; 289: 35: 24168-24179.; Orimo H., Nakajiama Z., Kijima K. et al. First trimestr prenatal molecular diagnosis of infantile hypophosphatasia in a Japanese family. Prenatal Diagnosis 1996; 6: 559—563.; Henthorn PS., Raducha M., Fedde K.N. et al. Different mu-taions at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc Natl Acad Sci USA 1992; 89: 9924-9928.; Mornet E. Hypophosphatasia. Orphanet J Rare Dis 2007; 2: 31 40.; McKusick V.A. First South-North Human Genome Conference. Genomics. 1992; 14: 4: 1121-1123.; Андреев И. Энзимные нарушения скелета. В кн.: Врож-; денные и приобретенные энзимопатии. М1980; 320.; Hofmann С, Girschick Н., Mornet E. et al. Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia. Eur J Hum Genet 2014; 22: 10: 1160-1164.; Barvencik F.,Beil F.T., Gebauer M. et al. Skeletal mineralization defects in adult hypophosphatasia — a clinical and histo-logical analysis. Osteoporosis Int 2011; 22: 10: 2667—2675.; Whyte M.P. Heritable metabolic and dysplastic bone diseases. Endocr Metab ClinNoth Am 1990; 19:133-173.; Brun-Heath I., Chabrol E., Fox M. et al. A case of lethal hy-pophspatasia providing new insights into the perinatal benign form hypophosphatasia and expression of the ALPL gene. Clin Genet 2008; 73: 245-250.; Whyte M.P. Hypophosphatasia. In: Scriver C.R., Beau-det A.L., Sly W.S., Valle D.(eds.). The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, 1995; 4095-4112.; Козлова СИ., Демикова Н.С., Семанова Е., Блинникова О.Е. Наследственные синдромы и медико-генетическое консультирование. М: Практика 1996; 416.; Сое J.D., Murphy W.A., Whyte M.P. Management of femoral fractures and pseudofractures in adult hypophosphatasia. J Bone Joint Surg Am 1986; 68: 981-990.; Whyte M.P. Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. J Bone Miner Res 2009; 24: 1132-1134.; Foster B.L., RamnitzM.S., Gafni R.I. et al. Rare Bone Diseases and Their Dental, Oral, and Craniofacial Manifestations. J Dent Res 2014; 93: 7:7S-19S.; McKiernan F.E., Berg R.L., Fuehrer J. Clinical and radio-graphic findings in adults with persistent hypophosphatas-emia. J Bone Miner Res 2014; 29: 7: 1651-60.; AmlingM., Hahn M., Wening V.J. et al. The microarchitecture of the axis as the predisposing factor for fracture of the base of the odontoid process. A histomorphometric analysis of twenty-two autopsy specimens. JBone Joint Surg Am 1994; 76: 1840-1846.; Mohn A., De Leonibus C, de Giorgis T. et al. Hypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment. Acta Paediatr 2011; 100: 7: e43-e46.; Whyte M.P. Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci 2010; 1192: 190-200.; Whyte M.P, Greenberg C.R., Salman S. et al. Enzyme replacement therapy in life-threatening hypophosphatasia. N Engl JMed2012; 366: 10: 904-913.; Ozpno K. Enzyme replacement therapy for hypophosphatasia. Clin Calcium 2014; 24: 2: 257-263.; undefined
Διαθεσιμότητα: https://www.ped-perinatology.ru/jour/article/view/81
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2Academic Journal
Συγγραφείς: P. V. Novikov
Πηγή: Rossijskij Vestnik Perinatologii i Pediatrii, Vol 60, Iss 1, Pp 23-26 (2016)
Θεματικοί όροι: дети, гипофосфатазия, моногенные болезни, щелочная фосфатаза, патогенетическое лечение, ферменто-заместителъная терапия, асфотаза альфа, Pediatrics, RJ1-570
Relation: https://www.ped-perinatology.ru/jour/article/view/81; https://doaj.org/toc/1027-4065; https://doaj.org/toc/2500-2228; https://doaj.org/article/c5aa310e75834807b1482cea28da170c
Διαθεσιμότητα: https://doaj.org/article/c5aa310e75834807b1482cea28da170c