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1Academic Journal
Συγγραφείς: N. N. Mazanova, A. Yu. Asanov, M. I. Bakanov, I. G. Chebelyaev, K. V. Savostyanov, Н. Н. Мазанова, А. Ю. Асанов, М. И. Баканов, И. Ю. Чебеляев, К. В. Савостьянов
Πηγή: Medical Genetics; Том 20, № 6 (2021); 3-13 ; Медицинская генетика; Том 20, № 6 (2021); 3-13 ; 2073-7998
Θεματικοί όροι: мутация гена GLA, lysosomal storage disease, enzyme α-galactosidase A, globotriaosylsphingosine, neonatal screening, mutations of the GLA gene, лизосомные болезни накопления, фермент α-галактозидаза А, глоботриаозилсфингозин, неонатальный скрининг
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Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet. Med. 2007; 9(1):34-45.; Кобринский Б.А. Континуум переходных состояний организма и мониторинг динамики здоровья детей: Монография. 2-е изд. Москва-Берлин: Direct-Media, 2016. 220 c.; Ortiz A., Germain D.P., Desnick R.J. et al. Fabry disease revisited: Management and treatment recommendations for adult patients. Molecular Genetics and Metabolism. 2018;123(4): 416-27.; Van der Veen S.J., Hollak C.E.M., van Kuilenburg et al. Developments in the treatment of Fabry disease. J Inherit Metab Dis. 2020 Sep;43(5):908-921. doi:10.1002/jimd.12228.; Meikle P.J. et al. Prevalence of lysosomal storage disorders. Journal of the American Medical Association. 1999; 281(3):249-254.; Wittmann J., Karg E., Turi S. et al. Newborn Screening for Lysosomal Storage Disorders in Hungary. JIMD Rep. 2012; 6:117-125.; Poorthuis B.J., Wevers R.A., Kleijer W.J. et al. The frequency of lysosomal storage diseases in Netherlands. Hum Genet. 1999; 105:151-156.; Spada M. et al. High incidence of later-onset Fabry disease revealed by newborn screening. American Journal of Human Genetics. 2006;79(1): 31-40.; MacDermot K.D., Holmes A., Miners A.H. Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males. Journal of Medical Genetics. 2001; 38(11):750-760.; Popli S. et al. Demonstration of Fabry’s disease deposits in placenta. American Journal of Obstetrics and Gynecology. 1990; 162(2): 464-465.; Hwu W.L. et al. Newborn screening for fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Human Mutation. 2009; 30(10): 1397-1405.; Asuman Özkara H., Topçu M. Sphingolipidoses in Turkey. Brain and Development. 2004; 26(6): 363-366.; Pinto R. et al. Prevalence of lysosomal storage diseases in Portugal. European Journal of Human Genetics. 2004; 12(2):87-92.; Colon C. et al. Newborn screening for Fabry disease in the north-west of Spain. European Journal of Pediatrics. 2017; 176(8):1075-1081.; Mechtler T.P. et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet. 2012; 9813 (379): 335-41.; Burton B.K. et al. Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience. The Journal of pediatrics. 2017;190:130-135.; Sakuraba H. et al. Fabry disease in a Japanese population-molecular and biochemical characteristics. Molecular genetics and metabolism reports. 2018;17:73-79.; Spada M., Pagliardini S., Yasuda M. et al. High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening. Am. J. Hum. Gemet. 2006; 79(1): 31-40.; Hwu W.L., Chien Y.H., Lee N.C. et al. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum. Mutat. 2009; 30(10): 1397-1405.; Sims K., Politei J., Banikazemi M. et al. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke 2009; 40:788-794.; Metha A., Ricci R., Widmer U., Dehoul F., Garcia de Lorenzo A., Kampmann C., et.al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004; 34(3):236-242.; Nakao S., Kodama C., Takenaka T. et.al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a ‘‘renal variant’’ phenotype. Kidney Int. 2003; 64(3):801-807.; Ishii S., Nakao S., Nakao., Minamikawa Tachino R. et al. Alternative splicing in the α-Galactosidase a gene: increased exon inclusion results in the Fabry cardiac phenotype. Am. J. Hum Genet. 2002; 70(4): 994-1002.; Biegstraaten M. et al. Small fiber neuropathy in Fabry disease. Mol genet Metab 2012; 106(2):135-41.; Germain D.P. Fabrys disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects J Soc Biol 2002; 196: 161-173.; Rost N.S., Cloonan L., Kanakis A.S. et al. Determinants of wile matter hyperintensity burden in patients with Fabry disease. Neurology 2016; 86(2):1880-6.; Моисеев С.В. Поражение сердца при болезни Фабри: как заподозрить, диагностировать и лечить? Клин фармакол тер 2012;21(3):72-7.; Hughes D., Elliott P., Shah J. et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomized, double βlind, placebo controlled clinical trial of agalsidase alfa. Heart 2008; 94(2):153-8.; Fervenza F.C., Torra R., Lager D.J. Fabry disease: an underrecognized cause of proteinuria. Kidney Int 2008; 73:1193-1199.; Schiffmann R., Warnock D.G., Banikazemi M., et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009; 24:2102-2111.; Sodi A., Ioannidis A.S., Mehta A., et al. Ocular manifestations of Fabry’s disease: data from the Fabry Outcome Survey. Br J Ophthalmol 2007; 91:210-214.; Sakurai Y., Kojima H., Shiwa M., et al. The hearing status in 12 female and 15 male Japanese Fabry patients. Auris Nasus Larynx 2009; 36:627-632.; Zampetti et al. Angiokeratoma decision-making and for the diagnosis of Fabry disease. British J of Dermat 2012; 166:712-720.; Hoffmann B., Schwarz M., Mehta A. et al. Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin Gastroenterol Hepatol 2007; 5:1447-1453.; Magage S., Lubanda J.C., Susa Z., et al. Natural history of the respiratory involvement in Anderson-Fabry disease. J Interit Metab Dis 2007; 30:790-799.; Germain D.P. Bone and muscle involvement in Fabry disease. NewYork, 2010:293-298.; Charrow J. A 14-year-old boy with pain in hands and feet. Pediatr Ann. 2009; 38:190-192.; MacDermot K.D., Holmes A., Miners A.H. Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. Journal of Medical Genetics. 2001; 38(11):769-775.; Papaxanthos-Roche A., Deminiere C., Bauduer F., et al. Azoospermia as a new feature of Fabry disease. Fertil Steril 2007; 88:212.e215-218.; Hauser A.C., Gessl A., Lorenz M., et al. High prevalence of subclinical hypothyroidism in patients with Anderson-Fabry disease. J Inherit Metab Dis 2005; 28:715-722.; Oliveira J.P., Valbuena C., Baldaia Moreira A., et al. Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson-Fabry disease. Virchows Arch 2008; 453:291-300.; Ries M., Gupta S., Moore D.F., et al. Pediatric Fabry disease. Pediatrics 2005; 115:e344-355.; Ramaswami U. et al. Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey. Acta Paediatrica, International Journal of Paediatrics. 2006; 95(1): 86-92.; Meikle J., Hopwood J.J., A. Clague E. et al. Prevalence of lysosomal storage disorders. JAMA. 1999; 281(3):249-254.; Olivova P., der Veen K.V., Culien E. et al. Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper. Clin Chim Acta 2009; 403: 159-162.; Merchesoni C.L., Roa N., Pardal M. et al. Misdiagnosis in Fabry disease. J. Pediatr. 2010; 156(5):828-831.; Sakuraba H., Togawa T., Tsukimura T. et al. Plasma lyso-Gb3: a biomarker for monitoring Fabry patients during enzyme replacement therapy. Clin Exp Nephrol. 2018;22(4): 843-9.; Heather J.M., Chain B. The sequence of sequencers: The history of sequencing DNA. Genomics. 2016;107(1): 1 - 8.; Oliveira J.P., Ferreira S. Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype- phenotype correlations. Appl Clin Genet. 2019; 12:35-50. doi:10.2147/TACG.S146022.; Kotanko P., Kramar R., Devrnja D. et al. Results of a Nationwide Screening for Anderson-Fabry J. Am. Soc. Nephrol. 2004; 15(5):1323-1329.; Merta M., Reiterova J., Ledvinova J. et al. A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population. Nephrol Dial Transplant. 2007 Jan; 22(1):179-86.; Porsch D.B., Nunes A.C., Milani V. et al. Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report. Ren. Fail. 2008; 30(9): 825-830.; Gaspar P., Herrera J., Rodriguesу D. et al. Frequency of Fabry disease in male and female haemodialysis patients in Spain. BMC Med Genet. 2010; 11: 19.; Maruyama H., Takata T., Tsubata Y. et al. Screening of Male Dialysis Patients for Fabry Disease by Plasma Globotriaosylsphingosine. Clin J Am Soc Nephrol. 2013 Apr 5; 8(4): 629-636.; Moiseev S., Fomin V., Savostyanov K. et al. The Prevalence and Clinical Features of Fabry Disease in Hemodialysis Patients: Russian Nationwide Fabry Dialysis Screening Program. Clin Pract. 2019 Apr; 141(4): 249-255.; Sadasivan C., Chow J.T.Y., Sheng B., et al. Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy. PLoS One. 2020 Sep 28;15(9):e0239675. doi:10.1371/journal.pone.0239675.; Sakuraba H., Murata-Ohsawa M., Kawashima I. et al. Comparison of the effects of agalsidasa alfa and agalsidasa beta on cultured human Fabry fibroblasts and Fabry mice. J Hum Genet 2006; 51:180-188.; Pisani A., Spinelli L., Visciano B. et al. Effects of switching from agalsidase beta to agalsidase alfa in 10 patients with Anderson-Fabry disease. JIMD Rep. 2013; 9:41-48.; Neufeld E.F. Lysosomal Storage Diseases. Annual Review of Biochemistry. 1991; 60(1): 257-280.
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2Academic Journal
Συγγραφείς: N. N. Mazanova, A. A. Pushkov, A. V. Pachomov, A. Y. Asanov, K. V. Savostyanov, Н. Н. Мазанова, А. А. Пушков, А. В. Пахомов, А. Ю. Асанов, К. В. Савостьянов
Πηγή: Medical Genetics; Том 19, № 7 (2020); 81-82 ; Медицинская генетика; Том 19, № 7 (2020); 81-82 ; 2073-7998
Θεματικοί όροι: мутации гена GLА, α-galactosidase A, glycosphingolipid, globotriaosylsphingosine, lysosomal storage disease, tandem mass-spectrometry, sequencing, mutations of the GLA gene, α-галактозидаза А, гликозилсфинголипиды, глоботриаозилсфингозин, лизосомные болезни накопления, тандемная масс-спектрометрия, секвенирование
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