Список литературы

Поставить закладку

Whyte M.P. Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol. 2016;12(4):233–246. doi: 10.1038/nrendo.2016.14.
Millán JL, Whyte MP. Alkaline phosphatase and hypophosphatasia. Calcif Tissue Int. 2016;98(4):398–416. doi: 10.1007/s00223-015-0079-1.
Mornet E, Yvard A, Taillandier A, et al. A molecular-based estimation of the prevalence of hypophosphatasia in the European population. Ann Hum Genet. 2011;75(3):439–445. doi: 10.1111/j.1469-1809.2011.00642.x.
Whyte MP, Leung E, Wilcox W, et al. Hypophosphatasia: a retrospective natural history study of the severe perinatal and infantile forms. Poster presented at the 2014 Pediatric Academic Societies and Asian Society for Pediatric Research Joint Meeting. Vancouver, B.C., Canada, May 5, 2014. Abstract 752416.
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. Bone. 2015;75:229–239. doi: 10.1016/j.bone.2015.02.022.
Bishop N, Munns CF, Ozono K. Transformative therapy in hypophosphatasia. Arch Dis Child. 2016;101(6):514–515. doi: 10.1136/archdischild-2015-309579.
Anderson HC, Harmey D, Camacho NP, et al. Sustained osteomalacia of long bones despite major improvement in other hypophosphatasia-related mineral deficits in tissue nonspecific alkaline phosphatase/nucleotide pyrophosphatase phosphodiesterase 1 double-deficient mice. Am J Pathol. 2005;166(6):1711–1720. doi: 10.1016/S0002-9440(10)62481-9.
Braunstein NА. Multiple fractures, pain, and severe disability in a patient with adult-onset hypophosphatasia. Bone Rep. 2016;4:1–4. doi: 10.1016/j.bonr.2015.10.005.
Whyte M. Hypophosphatasia. In: Thakker RV, Whyte MP, Eisman J, Igarashi T, editors. Genetics of bone biology and skeletal disease. London: Academic Press; 2013. p. 337–360.
Whyte MP, Greenberg CR, Salman NJ, et al. Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med. 2012;366(10):904–913. doi: 10.1056/NEJMoa1106173.
Fukazawa M, Tezuka J, Sasazuki M, Masumoto N, Baba H, Doi T, Tsutsumi Y, Mizuno Y, Mihara F, Nakayama H. Infantile hypophosphatasia combined with vitamin B₆-responsive seizures and reticular formation lesions on magnetic resonance imaging: A case report. Brain Dev. 2018 Feb;40(2):140-144. doi: 10.1016/j.braindev.2017.07.015.
Whyte MP, Coburn SP, Ryan LM, Ericson KL, Zhang F. Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosology. Bone. 2018 May 1;110:96-106.
Rush ET. Childhood hypophosphatasia: to treat or not to treat. Orphanet J Rare Dis. 2018 Jul 16;13(1):116
Simon S, Resch H, Klaushofer K, Roschger P, Zwerina J, Kocijan R. Hypophosphatasia: From Diagnosis to Treatment. Curr Rheumatol Rep. 2018 Sep 10;20(11):69
Khan AA, Josse R, Kannu P, Villeneuve J, Paul T, Van Uum S, Greenberg CR. Hypophosphatasia: Canadian update on diagnosis and management. Osteoporos Int. 2019 Sep;30(9):1713-1722
Mornet E. Hypophosphatasia. Metabolism. 2018 May;82:142-155
Briot K, Roux C. Adult hypophosphatasia. Arch Pediatr. 2017 May;24(5S2):5S71-5S73
Kishnani PS, Rush ET, Arundel P, Bishop N, Dahir K, Fraser W, Harmatz P, Linglart A, Munns CF, Nunes ME, Saal HM, Seefried L, Ozono K. Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. Mol Genet Metab. 2017 Sep;122(1-2):4-17. doi: 10.1016/j.ymgme.2017.07.010
Гуркина Е.Ю., Воинова В.Ю., Кузенкова Л.М. и др. Гипофосфатазия. Обзор клинических случаев, опубликованных в РФ. РМЖ. 2021;2:42–48.
Michigami T, Ohata Y, Fujiwara M, Mochizuki H, Adachi M, Kitaoka T, Kubota T, Sawai H, Namba N, Hasegawa K, Fujiwara I, Ozono K. Clinical Practice Guidelines for Hypophosphatasia. Clin Pediatr Endocrinol. 2020;29(1):9-24
Estey MP, Cohen AH, Colantonio DA, Chan MK, Marvasti TB, Randell E, et al. CLSI-based transference of the CALIPER database of pediatric reference intervals from Abbott to Beckman, Ortho, Roche and Siemens Clinical Chemistry Assays: direct validation using reference samples from the CALIPER cohort. Clin Biochem. 2013;46:1197–219
Ройтман А.П., Мамедов И.С., Сухоруков В.С. Референтные интервалы активности щелочной фосфатазы у детей в сыворотке крови. Лабораторная диагностика гипофосфатазии. Лабораторная служба. 2015;4(1):35-41. https://doi.org/10.17116/labs20154135-41
Mornet E. Hypophosphatasia. Metabolism. 2018 May;82:142-155. doi: 10.1016/j.metabol.2017.08.013
Villa-Suárez, J.M.; García-Fontana, C.; Andújar-Vera, F.; González-Salvatierra, S.; de Haro-Muñoz, T.; Contreras-Bolívar, V.; García-Fontana, B.; Muñoz-Torres, M. Hypophosphatasia: A Unique Disorder of Bone Mineralization. Int. J. Mol. Sci. 2021, 22, 4303. https://doi.org/10.3390/ijms22094303
Christine Hofmann C., Girschick H., Mornet E., Schneider D., Jakob F., Mentrup B. Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia, European Journal of Human Genetics volume 22, pages1160–1164 (2014)
Mornet E. Molecular Genetics of Hypophosphatasia and Phenotype-Genotype Correlations. Subcell Biochem. 2015;76:25-43. doi: 10.1007/978-94-017-7197-9_2
Ishiguro T. et al. Findings of amplitude-integrated electroencephalogram recordings and serum vitamin B₆ metabolites in perinatal lethal hypophosphatasia during enzyme replacement therapy //Brain and Development. – 2019. – Т. 41. – №. 8. – С. 721-725
Martos-Moreno G.A., Calzada J., Couce M.L., Argente J. Hipofosfatasia: manifestaciones clínicas, recomendaciones diagnósticas y opciones terapéuticas [Hypophosphatasia: Clinical manifestations, diagnostic recommendations and therapeutic options]. An Pediatr (Engl Ed). 2018 Jun;88(6):356.e1-356.e11. Spanish. doi: 10.1016/j.anpedi.2017.06.004
Girschick HJ, Schneider P, Haubitz I, et al. Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia. Orphanet J Rare Dis. 2006 Jun 28;1:24. doi: 10.1186/1750-1172-1-24
Di Rocco F, Baujat G, Cormier-Daire V, Rothenbuhler A, Linglart A. Craniosynostosis and hypophosphatasia. Arch Pediatr. 2017 May;24(5S2):5S89-5S92. doi: 10.1016/S0929-693X(18)30022-8
Vogt M, Girschick H, Schweitzer T, Benoit C, Holl-Wieden A, Seefried L, Jakob F, Hofmann C. Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children. Orphanet J Rare Dis. 2020 Aug 18;15(1):212. doi: 10.1186/s13023-020-01500-x
Collmann H, Mornet E, Gattenlöhner S, Beck C, Girschick H. Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst. 2009 Feb;25(2):217-23
Graham B.L., Steenbruggen I., Miller M.R., Barjaktarevic I.Z., Cooper B..G, Hall G.L., Hallstrand T.S., Kaminsky D.A., McCarthy K., McCormack M.C., Oropez CE, Rosenfeld M., Stanojevic S., Swanney M.P., Thompson B.R.. Standardization of Spirometry 2019 Update. An Official American Thoracic Society and European Respiratory Society Technical Statement
Beydon N, Davis SD, Lombardi E, Allen JL, Arets HG, Aurora P, Bisgaard H, Davis GM, Ducharme FM, Eigen H, Gappa M, Gaultier C, Gustafsson PM, Hall GL, Hantos Z, Healy et al.; American Thoracic Society/European Respiratory Society Working Group on Infant and Young Children Pulmonary Function Testing. An official American Thoracic Society/European Respiratory Society statement: pulmonary function testing in preschool children. Am J Respir Crit Care Med. 2007 Jun 15;175(12):1304-45
Kiselnikova, L. Dental manifestations of hypophosphatasia in children and the effects of enzyme replacement therapy on dental status: a series of clinical cases/ Kiselnikova L., Vislobokova E., Voinova V. // Clinical Case Reports. – 2020. – №8. – Р. 911-918
Whyte M.P., Rockman-Greenberg C., Ozono K., Riese R., Moseley S., Melian A., Thompson D.D., Bishop N., Hofmann C. Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia. J Clin Endocrinol Metab. 2016 Jan;101(1):334-42
Kitaoka T, Tajima T, Nagasaki K, Kikuchi T, Yamamoto K, Michigami T, Okada S, Fujiwara I, Kokaji M, Mochizuki H, Ogata T, Tatebayashi K, Watanabe A, Yatsuga S, Kubota T, Ozono K. Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial. Clin Endocrinol (Oxf). 2017 Jul;87(1):10-19
Kamran A., Jennings R.W. Tracheomalacia and Tracheobronchomalacia in Pediatrics: An Overview of Evaluation, Medical Management, and Surgical Treatment. Front Pediatr. 2019 Dec 12;7:512. doi: 10.3389/fped.2019.00512
Adam MP, Everman DB, Mirzaa GM, et al., editors. Mark E Nunes Hypophosphatasia. GeneReviews® [Internet] Seattle (WA): University of Washington, Seattle; 1993-2022 https://www.ncbi.nlm.nih.gov/books/NBK1150/
Vislobokova E., Kiselnikova L., Voinova V., Sholokhova N. Dental findings in patients with hypophosphatasia Scientific Abstracts of the 14th Congress of the European Academy of Paediatric Dentistry (EAPD) Palazzo dei Congressi, Lake Lugano, Switzerland 20th to 23rd June 2018. Eur Arch Paediatr Dent 20, 127–237 (2019): P.152; https://doi.org/10.1007/s40368-018-0390-4
Yamamoto H, Sasamoto Y, Miyamoto Y, Murakami H, Kamiyama N. A successful treatment with pyridoxal phosphate for West syndrome in hypophosphatasia. Pediatr Neurol. 2004 Mar;30(3):216-8
de Roo MGA, Abeling NGGM, Majoie CB, Bosch AM, Koelman JHTM, Cobben JM, Duran M, Poll-The BT. Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures. Mol Genet Metab. 2014 Mar;111(3):404-407
Belachew D, Kazmerski T, Libman I, Goldstein AC, Stevens ST, Deward S, Vockley J, Sperling MA, Balest AL. Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures. JIMD Rep. 2013;11:17-24
Taketani T. Neurological Symptoms of Hypophosphatasia. Subcell Biochem. 2015;76:309-22
Nunes ML, Mugnol F, Bica I, Fiori RM. Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn. J Child Neurol. 2002 Mar;17(3):222-4
Bianchi ML, Bishop NJ, Guañabens N, Hofmann C, Jakob F, Roux C, Zillikens MC; Rare Bone Disease Action Group of the European Calcified Tissue Society. Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment. Osteoporos Int. 2020 Aug;31(8):1445-1460
Leung EC, Mhanni AA, Reed M, Whyte MP, Landy H, Greenberg CR. Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis. JIMD Rep. 2013;11:73-8. doi: 10.1007/8904_2013_224. Epub 2013 Apr 12. PMID: 23580367
ATS statement: Guidelines for the Six-Minute Walk Test. American Journal of Respiratory and Critical Care Medicine. Vol. 166, No.1. Jul 01, 2002
Borg GAV. Psycho-physical bases of perceived exertion. Med Sci Sports Exerc 1982;14:377–381,
Borg, G. Borg"s Perceived Exertion and pain Scales. USA: Human Kinetics, 1998, p. 2,
Grant S, Aitchison T, Henderson E, Christie J, Zare S, McMurray J, Dargie H. A comparison of the reproducibility and the sensitivity to change of visual analogue scales, Borg scales, and Likert scales in normal subjects during submaximal exercise. Chest. 1999 Nov;116(5):1208-17
Hypophosphatasia (HPP) Treatment & ManagementUpdated: Aug 07, 2019 Author: Ricardo R Correa Marquez, MD, EsD, FACP, FACE, FAPCR, CMQ, ABDA, FACHT; Chief Editor: Luis O Rohena, MD, MS https://emedicine.medscape.com/article/945375-treatment#d6
Yang Y, Liu Z, Wei L, Taylor TD, Xiao H. Prosthodontic Rehabilitation of a Patient with Hypophosphatasia Using Dental Implants: A Case Report with Seven Years Follow-Up. J Prosthodont. 2021 Dec;30(9):742-746. doi: 10.1111/jopr.13419
Tournis S, Yavropoulou MP, Polyzos SA, Doulgeraki A. Hypophosphatasia. J Clin Med. 2021 Dec 1;10(23):5676. doi: 10.3390/jcm10235676
Tsang Tiffany, Maya P Raghuwanshi. “Hypophosphatasia Misdiagnosed as Osteoporosis in a Young Girl.” Journal of the Endocrine Society vol. 5,Suppl 1 A201–A202. 3 May. 2021, doi:10.1210/jendso/bvab048.409
Коняхина Г.П., Захарова Н.А. Лечебная физкультура для детей с ограниченными возможностями здоровья. Учебно-методическое пособие. Челябинск, 2019
Методические рекомендации № 83. Медико-психологическая помощь детям с нарушением психического развития в системе комплексной реабилитации. Москва, ДЗМ, 2018 г. – 28с.
Linglart A, Biosse-Duplan M. Hypophosphatasia. Curr Osteoporos Rep. 2016 Jun;14(3):95-105. doi: 10.1007/s11914-016-0309-0, Phillips D, Case LE, Griffin D, Hamilton K, Lara SL, Leiro B, Monfreda J, Westlake E, Kishnani PS. Physical therapy management of infants and children with hypophosphatasia. Mol Genet Metab. 2016 Sep;119(1-2):14-9. doi: 10.1016/j.ymgme.2016.06.010
Simon S, Resch H. Treatment of hypophosphatasia. Wien Med Wochenschr. 2020 Apr;170(5-6):112-115. English. doi: 10.1007/s10354-020-00736-3
Miyashita S., Ochiai S., Sakamoto С., Motegi E., Tada K., Fukasawa VP13. 10: Prenatal ultrasound findings in a survived case of perinatal lethal hypophosphatasia with enzyme replacement therapy started early in life //Ultrasound in Obstetrics & Gynecology. – 2020. – Т. 56. – С. 104-104