{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T21:27:29Z","timestamp":1792099649053,"version":"4.4.0"},"reference-count":62,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,11,28]],"date-time":"2024-11-28T00:00:00Z","timestamp":1732752000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2024,11,28]],"date-time":"2024-11-28T00:00:00Z","timestamp":1732752000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"name":"National High-Level Hospital Clinical Research Funding","award":["2022-PUMCH-D-002"],"award-info":[{"award-number":["2022-PUMCH-D-002"]}]},{"name":"National High-Level Hospital Clinical Research Funding","award":["2022-PUMCH-D-002"],"award-info":[{"award-number":["2022-PUMCH-D-002"]}]},{"name":"National High-Level Hospital Clinical Research Funding","award":["2022-PUMCH-D-002"],"award-info":[{"award-number":["2022-PUMCH-D-002"]}]},{"name":"National High-Level Hospital Clinical Research Funding","award":["2022-PUMCH-D-002"],"award-info":[{"award-number":["2022-PUMCH-D-002"]}]},{"name":"National High-Level Hospital Clinical Research Funding","award":["2022-PUMCH-D-002"],"award-info":[{"award-number":["2022-PUMCH-D-002"]}]},{"name":"National High-Level Hospital Clinical Research Funding","award":["2022-PUMCH-D-002"],"award-info":[{"award-number":["2022-PUMCH-D-002"]}]},{"name":"National High-Level Hospital Clinical Research Funding","award":["2022-PUMCH-D-002"],"award-info":[{"award-number":["2022-PUMCH-D-002"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genomics"],"DOI":"10.1186\/s40246-024-00697-3","type":"journal-article","created":{"date-parts":[[2024,11,28]],"date-time":"2024-11-28T00:49:51Z","timestamp":1732754991000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease"],"prefix":"10.1186","volume":"18","author":[{"given":"Fengxia","family":"Yao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Na","family":"Hao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danhua","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weimin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingwen","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengqing","family":"Qiu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aiping","family":"Mao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanli","family":"Meng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juntao","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,11,28]]},"reference":[{"key":"697_CR1","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1186\/1750-1172-5-30","volume":"5","author":"DP Germain","year":"2010","unstructured":"Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.","journal-title":"Orphanet J Rare Dis"},{"issue":"9647","key":"697_CR2","doi-asserted-by":"publisher","first-page":"1427","DOI":"10.1016\/S0140-6736(08)61589-5","volume":"372","author":"YA Zarate","year":"2008","unstructured":"Zarate YA, Hopkin RJ. Fabry\u2019s disease. Lancet. 2008;372(9647):1427\u201335.","journal-title":"Lancet"},{"issue":"16","key":"697_CR3","doi-asserted-by":"publisher","first-page":"1395","DOI":"10.1093\/eurheartj\/ehae148","volume":"45","author":"M Pieroni","year":"2024","unstructured":"Pieroni M, Namdar M, Olivotto I, Desnick RJ. Anderson-Fabry disease management: role of the cardiologist. Eur Heart J. 2024;45(16):1395\u2013409.","journal-title":"Eur Heart J"},{"issue":"5","key":"697_CR4","doi-asserted-by":"publisher","first-page":"1631","DOI":"10.1681\/ASN.2016090964","volume":"28","author":"M Arends","year":"2017","unstructured":"Arends M, Wanner C, Hughes D, Mehta A, Oder D, Watkinson OT, et al. Characterization of classical and nonclassical Fabry disease: a multicenter study. J Am Soc Nephrol. 2017;28(5):1631\u201341.","journal-title":"J Am Soc Nephrol"},{"issue":"8","key":"697_CR5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.8.e103","volume":"40","author":"A Morrone","year":"2003","unstructured":"Morrone A, Cavicchi C, Bardelli T, Antuzzi D, Parini R, Di Rocco M, et al. Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers. J Med Genet. 2003;40(8): e103.","journal-title":"J Med Genet"},{"issue":"8","key":"697_CR6","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1007\/s00109-005-0656-2","volume":"83","author":"R Dobrovolny","year":"2005","unstructured":"Dobrovolny R, Dvorakova L, Ledvinova J, Magage S, Bultas J, Lubanda JC, et al. Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase a gene in the czech and slovak population. J Mol Med. 2005;83(8):647\u201354.","journal-title":"J Mol Med"},{"issue":"3","key":"697_CR7","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1001\/jama.281.3.249","volume":"281","author":"PJ Meikle","year":"1999","unstructured":"Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999;281(3):249\u201354.","journal-title":"JAMA"},{"issue":"1","key":"697_CR8","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1136\/jmedgenet-2013-101857","volume":"51","author":"L van der Tol","year":"2014","unstructured":"van der Tol L, Smid BE, Poorthuis BJ, Biegstraaten M, Deprez RH, Linthorst GE, et al. A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance. J Med Genet. 2014;51(1):1\u20139.","journal-title":"J Med Genet"},{"key":"697_CR9","volume":"19","author":"SJ Chin","year":"2022","unstructured":"Chin SJ, Fuller M. Prevalence of lysosomal storage disorders in Australia from 2009 to 2020. Lancet Reg Health West Pac. 2022;19: 100344.","journal-title":"Lancet Reg Health West Pac"},{"issue":"4","key":"697_CR10","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1136\/jmg-2022-108523","volume":"60","author":"M Gilchrist","year":"2023","unstructured":"Gilchrist M, Casanova F, Tyrrell JS, Cannon S, Wood AR, Fife N, et al. Prevalence of Fabry disease-causing variants in the UK Biobank. J Med Genet. 2023;60(4):391\u20136.","journal-title":"J Med Genet"},{"issue":"1","key":"697_CR11","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1086\/504601","volume":"79","author":"M Spada","year":"2006","unstructured":"Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet. 2006;79(1):31\u201340.","journal-title":"Am J Hum Genet"},{"issue":"4","key":"697_CR12","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1136\/jmedgenet-2017-105080","volume":"55","author":"D Doheny","year":"2018","unstructured":"Doheny D, Srinivasan R, Pagant S, Chen B, Yasuda M, Desnick RJ. Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995\u20132017. J Med Genet. 2018;55(4):261\u20138.","journal-title":"J Med Genet"},{"issue":"10","key":"697_CR13","doi-asserted-by":"publisher","first-page":"1037","DOI":"10.1016\/j.jacc.2016.05.090","volume":"68","author":"V Favalli","year":"2016","unstructured":"Favalli V, Disabella E, Molinaro M, Tagliani M, Scarabotto A, Serio A, et al. Genetic screening of Anderson-Fabry disease in probands referred from multispecialty clinics. J Am Coll Cardiol. 2016;68(10):1037\u201350.","journal-title":"J Am Coll Cardiol"},{"issue":"Suppl 2","key":"697_CR14","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1093\/ndt\/gfab038","volume":"36","author":"M Lenders","year":"2021","unstructured":"Lenders M, Brand E. Precision medicine in Fabry disease. Nephrol, Dialysis, Transplant. 2021;36(Suppl 2):14\u201323.","journal-title":"Nephrol, Dialysis, Transplant"},{"issue":"6","key":"697_CR15","doi-asserted-by":"publisher","first-page":"688","DOI":"10.1002\/humu.21474","volume":"32","author":"R Dobrovolny","year":"2011","unstructured":"Dobrovolny R, Nazarenko I, Kim J, Doheny D, Desnick RJ. Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel \u03b1-galactosidase A (GLA) deletions causing Fabry disease. Hum Mutat. 2011;32(6):688\u201395.","journal-title":"Hum Mutat"},{"issue":"3","key":"697_CR16","doi-asserted-by":"publisher","first-page":"382","DOI":"10.1016\/j.ymgme.2008.03.017","volume":"94","author":"A Schirinzi","year":"2008","unstructured":"Schirinzi A, Centra M, Prattichizzo C, Gigante M, De Fabritiis M, Giancaspro V, et al. Identification of GLA gene deletions in Fabry patients by multiplex ligation-dependent probe amplification (MLPA). Mol Genet Metab. 2008;94(3):382\u20135.","journal-title":"Mol Genet Metab"},{"issue":"16","key":"697_CR17","doi-asserted-by":"publisher","first-page":"9319","DOI":"10.1016\/S0021-9258(19)38851-9","volume":"265","author":"R Kornreich","year":"1990","unstructured":"Kornreich R, Bishop DF, Desnick RJ. Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene. J Biol Chem. 1990;265(16):9319\u201326.","journal-title":"J Biol Chem"},{"issue":"4","key":"697_CR18","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1016\/j.ymgme.2018.02.014","volume":"123","author":"A Ortiz","year":"2018","unstructured":"Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4):416\u201327.","journal-title":"Mol Genet Metab"},{"issue":"1","key":"697_CR19","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1186\/s13023-021-02136-1","volume":"16","author":"Q Shen","year":"2021","unstructured":"Shen Q, Liu J, Chen J, Zhou S, Wang Y, Yu L, et al. Multidisciplinary approach to screening and management of children with Fabry disease: practice at a tertiary children\u2019s hospital in China. Orphanet J Rare Dis. 2021;16(1):509.","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"697_CR20","doi-asserted-by":"publisher","first-page":"274","DOI":"10.3343\/alm.2013.33.4.274","volume":"33","author":"B Johnson","year":"2013","unstructured":"Johnson B, Mascher H, Mascher D, Legnini E, Hung CY, Dajnoki A, et al. Analysis of lyso-globotriaosylsphingosine in dried blood spots. Ann Lab Med. 2013;33(4):274\u20138.","journal-title":"Ann Lab Med"},{"issue":"4","key":"697_CR21","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1111\/cge.13694","volume":"97","author":"S Balendran","year":"2020","unstructured":"Balendran S, Oliva P, Sansen S, Mechtler TP, Streubel B, Cobos PN, et al. Diagnostic strategy for females suspected of Fabry disease. Clin Genet. 2020;97(4):655\u201360.","journal-title":"Clin Genet"},{"issue":"5","key":"697_CR22","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1007\/s10545-012-9547-1","volume":"36","author":"YH Chien","year":"2013","unstructured":"Chien YH, Bodamer OA, Chiang SC, Mascher H, Hung C, Hwu WL. Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation. J Inherit Metab Dis. 2013;36(5):881\u20135.","journal-title":"J Inherit Metab Dis"},{"issue":"3","key":"697_CR23","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1016\/j.ymgme.2020.04.006","volume":"130","author":"AR Stiles","year":"2020","unstructured":"Stiles AR, Zhang H, Dai J, McCaw P, Beasley J, Rehder C, et al. A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females. Mol Genet Metab. 2020;130(3):209\u201314.","journal-title":"Mol Genet Metab"},{"issue":"6","key":"697_CR24","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1111\/cge.13936","volume":"99","author":"R Delarosa-Rodr\u00edguez","year":"2021","unstructured":"Delarosa-Rodr\u00edguez R, Santotoribio JD, Paula HA, Gonz\u00e1lez-Meneses A, Garc\u00eda-Morillo S, Jim\u00e9nez-Arriscado P, et al. Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing. Clin Genet. 2021;99(6):761\u201371.","journal-title":"Clin Genet"},{"issue":"1","key":"697_CR25","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1186\/s13023-022-02377-8","volume":"17","author":"X Dai","year":"2022","unstructured":"Dai X, Zong X, Pan X, Lu W, Jiang GR, Lin F. Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease. Orphanet J Rare Dis. 2022;17(1):237.","journal-title":"Orphanet J Rare Dis"},{"issue":"10","key":"697_CR26","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.9354","volume":"12","author":"Y Elsherif","year":"2024","unstructured":"Elsherif Y, Ibrahim IA, Elsherif O, Abukhadijah HJ. The unlikely combination: Anderson-Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient. Clin Case Rep. 2024;12(10): e9354.","journal-title":"Clin Case Rep"},{"issue":"18","key":"697_CR27","doi-asserted-by":"publisher","first-page":"10064","DOI":"10.3390\/ijms221810064","volume":"22","author":"V La Cognata","year":"2021","unstructured":"La Cognata V, Guarnaccia M, Morello G, Ruggieri M, Polizzi A, Cavallaro S. Design and validation of a custom NGS panel. Targeting a set of lysosomal storage diseases candidate for NBS applications. Int J Mol Sci. 2021;22(18):10064.","journal-title":"Int J Mol Sci"},{"issue":"1","key":"697_CR28","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1186\/s13073-023-01194-3","volume":"15","author":"FK Mastrorosa","year":"2023","unstructured":"Mastrorosa FK, Miller DE, Eichler EE. Applications of long-read sequencing to mendelian genetics. Genome Med. 2023;15(1):42.","journal-title":"Genome Med"},{"issue":"1","key":"697_CR29","doi-asserted-by":"publisher","first-page":"22372","DOI":"10.1038\/s41598-021-01749-7","volume":"11","author":"A Nowak","year":"2021","unstructured":"Nowak A, Murik O, Mann T, Zeevi DA, Altarescu G. Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing. Sci Rep. 2021;11(1):22372.","journal-title":"Sci Rep"},{"key":"697_CR30","doi-asserted-by":"publisher","first-page":"119824","DOI":"10.1016\/j.cca.2024.119824","volume":"561","author":"L Kuchar","year":"2024","unstructured":"Kuchar L, Berna L, Poupetova H, Ledvinova J, Ruzicka P, Dostalova G, et al. LysoGb3 quantification facilitates phenotypic categorization of Fabry disease patients: insights gained by a novel MS\/MS method. Clin Chim Acta. 2024;561:119824.","journal-title":"Clin Chim Acta"},{"issue":"5","key":"697_CR31","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 2015;17(5):405\u201324.","journal-title":"Genet Med"},{"issue":"6","key":"697_CR32","first-page":"1186","volume":"53","author":"CM Eng","year":"1993","unstructured":"Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ. Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. Am J Hum Genet. 1993;53(6):1186\u201397.","journal-title":"Am J Hum Genet"},{"issue":"6","key":"697_CR33","doi-asserted-by":"publisher","first-page":"1019","DOI":"10.1093\/hmg\/3.6.1019","volume":"3","author":"C Meaney","year":"1994","unstructured":"Meaney C, Blanch LC, Morris CP. A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease. Hum Mol Genet. 1994;3(6):1019\u201320.","journal-title":"Hum Mol Genet"},{"issue":"1","key":"697_CR34","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3858\/emm.2009.41.1.001","volume":"41","author":"JY Park","year":"2009","unstructured":"Park JY, Kim GH, Kim SS, Ko JM, Lee JJ, Yoo HW. Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease. Exp Mol Med. 2009;41(1):1\u20137.","journal-title":"Exp Mol Med"},{"issue":"6","key":"697_CR35","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1056\/NEJM199102073240607","volume":"324","author":"W von Scheidt","year":"1991","unstructured":"von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, H\u00fcbner G, Olsen EG, et al. An atypical variant of Fabry\u2019s disease with manifestations confined to the myocardium. N Engl J Med. 1991;324(6):395\u20139.","journal-title":"N Engl J Med"},{"issue":"3","key":"697_CR36","doi-asserted-by":"publisher","first-page":"1219","DOI":"10.1006\/bbrc.1995.2416","volume":"214","author":"T Okumiya","year":"1995","unstructured":"Okumiya T, Ishii S, Takenaka T, Kase R, Kamei S, Sakuraba H, et al. Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease. Biochem Biophys Res Commun. 1995;214(3):1219\u201324.","journal-title":"Biochem Biophys Res Commun"},{"issue":"39","key":"697_CR37","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000022326","volume":"99","author":"J Tang","year":"2020","unstructured":"Tang J, Wu C, Cao J, Wang L. Fabry disease with early-onset ventricular dilation: a case report. Medicine. 2020;99(39): e22326.","journal-title":"Medicine"},{"issue":"1","key":"697_CR38","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1186\/s13023-019-1274-3","volume":"15","author":"P Varela","year":"2020","unstructured":"Varela P, Mastroianni Kirsztajn G, Motta FL, Martin RP, Tura\u00e7a LT, Ferrer HLF, et al. Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients. Orphanet J Rare Dis. 2020;15(1):30.","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"697_CR39","first-page":"245","volume":"36","author":"T Yokoi","year":"1991","unstructured":"Yokoi T, Shinoda K, Ohno I, Kato K, Miyawaki T, Taniguchi N. A 3\u2019 splice site consensus sequence mutation in the intron 3 of the alpha-galactosidase A gene in a patient with Fabry disease. Jinrui idengaku zasshi Jpn J Hum Genet. 1991;36(3):245\u201350.","journal-title":"Jinrui idengaku zasshi Jpn J Hum Genet"},{"issue":"2","key":"697_CR40","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1016\/S0387-7604(96)00486-X","volume":"19","author":"T Takata","year":"1997","unstructured":"Takata T, Okumiya T, Hayashibe H, Shimmoto M, Kase R, Itoh K, et al. Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis. Brain Develop. 1997;19(2):111\u20136.","journal-title":"Brain Develop"},{"issue":"1\u20132","key":"697_CR41","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1016\/S0009-8981(98)00133-8","volume":"280","author":"EM Beyer","year":"1999","unstructured":"Beyer EM, Karpova EA, Udalova OV, van Amstel JP, Van Diggelen OP. Tsvetkova IV The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A. Clin Chim Acta. 1999;280(1\u20132):81\u20139.","journal-title":"Clin Chim Acta"},{"issue":"3","key":"697_CR42","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1007\/BF03401671","volume":"3","author":"CM Eng","year":"1997","unstructured":"Eng CM, Ashley GA, Burgert TS, Enriquez AL, D\u2019Souza M, Desnick RJ. Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. Mol Med. 1997;3(3):174\u201382.","journal-title":"Mol Med"},{"issue":"4","key":"697_CR43","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1159\/000472202","volume":"4","author":"JP Davies","year":"1996","unstructured":"Davies JP, Eng CM, Hill JA, Malcolm S, MacDermot K, Winchester B, et al. Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries. Eur J Hum Genet: EJHG. 1996;4(4):219\u201324.","journal-title":"Eur J Hum Genet: EJHG"},{"issue":"4","key":"697_CR44","first-page":"424","volume":"45","author":"OTD Paz","year":"2023","unstructured":"Paz OTD, Lacerda RCT, de Andrade LGM. Genetic and phenotypic profile of Fabry disease in the population of Vale do Paraiba and Eastern S\u00e3o Paulo. J Bras Nefrol. 2023;45(4):424\u201339.","journal-title":"J Bras Nefrol"},{"issue":"8","key":"697_CR45","first-page":"551","volume":"90","author":"Y Meng","year":"2010","unstructured":"Meng Y, Zhang WM, Shi HP, Wei M, Huang SZ. Clinical manifestations and mutation study in 16 Chinese patients with Fabry disease. Zhonghua Yi Xue Za Zhi. 2010;90(8):551\u20134.","journal-title":"Zhonghua Yi Xue Za Zhi"},{"issue":"6","key":"697_CR46","doi-asserted-by":"publisher","first-page":"1365","DOI":"10.1016\/j.clinph.2008.02.004","volume":"119","author":"SM Laaksonen","year":"2008","unstructured":"Laaksonen SM, R\u00f6ytt\u00e4 M, J\u00e4\u00e4skel\u00e4inen SK, Kantola I, Penttinen M, Falck B. Neuropathic symptoms and findings in women with Fabry disease. Clin Neurophysiol. 2008;119(6):1365\u201372.","journal-title":"Clin Neurophysiol"},{"issue":"5","key":"697_CR47","doi-asserted-by":"publisher","first-page":"738","DOI":"10.1007\/s00415-008-0786-x","volume":"255","author":"AP Burlina","year":"2008","unstructured":"Burlina AP, Manara R, Caillaud C, Laissy JP, Severino M, Klein I, et al. The pulvinar sign: frequency and clinical correlations in Fabry disease. J Neurol. 2008;255(5):738\u201344.","journal-title":"J Neurol"},{"issue":"6","key":"697_CR48","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1007\/BF03402156","volume":"8","author":"DP Germain","year":"2002","unstructured":"Germain DP, Shabbeer J, Cotigny S, Desnick RJ. Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes. Mol Med. 2002;8(6):306\u201312.","journal-title":"Mol Med"},{"issue":"3","key":"697_CR49","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1002\/humu.9172","volume":"22","author":"A Rodr\u00edguez-Mar\u00ed","year":"2003","unstructured":"Rodr\u00edguez-Mar\u00ed A, Coll MJ, Chab\u00e1s A. Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female. Hum Mutat. 2003;22(3):258.","journal-title":"Hum Mutat"},{"issue":"2","key":"697_CR50","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1002\/humu.9520","volume":"29","author":"M Shimotori","year":"2008","unstructured":"Shimotori M, Maruyama H, Nakamura G, Suyama T, Sakamoto F, Itoh M, et al. Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone. Hum Mutat. 2008;29(2):331.","journal-title":"Hum Mutat"},{"issue":"4","key":"697_CR51","doi-asserted-by":"publisher","first-page":"667","DOI":"10.1093\/hmg\/3.4.667","volume":"3","author":"J Davies","year":"1994","unstructured":"Davies J, Christomanou H, Winchester B, Malcolm S. Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease. Hum Mol Genet. 1994;3(4):667\u20139.","journal-title":"Hum Mol Genet"},{"issue":"9","key":"697_CR52","doi-asserted-by":"publisher","first-page":"775","DOI":"10.1038\/jhg.2016.52","volume":"61","author":"J Seo","year":"2016","unstructured":"Seo J, Kim M, Hong GR, Kim DS, Son JW, Cho IJ, et al. Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis. J Hum Genet. 2016;61(9):775\u201380.","journal-title":"J Hum Genet"},{"issue":"8","key":"697_CR53","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0161330","volume":"11","author":"X Pan","year":"2016","unstructured":"Pan X, Ouyang Y, Wang Z, Ren H, Shen P, Wang W, et al. Genotype: A crucial but not unique factor affecting the clinical phenotypes in Fabry disease. PLoS ONE. 2016;11(8): e0161330.","journal-title":"PLoS ONE"},{"issue":"10","key":"697_CR54","doi-asserted-by":"publisher","first-page":"1795","DOI":"10.1093\/hmg\/3.10.1795","volume":"3","author":"CM Eng","year":"1994","unstructured":"Eng CM, Niehaus DJ, Enriquez AL, Burgert TS, Ludman MD, Desnick RJ. Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene. Hum Mol Genet. 1994;3(10):1795\u20139.","journal-title":"Hum Mol Genet"},{"issue":"2","key":"697_CR55","doi-asserted-by":"publisher","first-page":"271","DOI":"10.3390\/biom11020271","volume":"11","author":"K Kok","year":"2021","unstructured":"Kok K, Zwiers KC, Boot RG, Overkleeft HS, Aerts J, Artola M. Fabry disease: molecular basis, pathophysiology, diagnostics and potential therapeutic directions. Biomolecules. 2021;11(2):271.","journal-title":"Biomolecules"},{"issue":"7","key":"697_CR56","doi-asserted-by":"publisher","first-page":"922","DOI":"10.1016\/j.jacc.2020.12.024","volume":"77","author":"M Pieroni","year":"2021","unstructured":"Pieroni M, Moon JC, Arbustini E, Barriales-Villa R, Camporeale A, Vujkovac AC, et al. Cardiac involvement in Fabry disease: JACC review topic of the week. J Am Coll Cardiol. 2021;77(7):922\u201336.","journal-title":"J Am Coll Cardiol"},{"key":"697_CR57","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.mcp.2019.03.008","volume":"45","author":"M Farr","year":"2019","unstructured":"Farr M, Ferreira S, Al-Dilaimi A, B\u00f6geholz S, Goesmann A, Kalinowski J, et al. Fabry disease: detection of Alu-mediated exon duplication by NGS. Mol Cell Probes. 2019;45:79\u201383.","journal-title":"Mol Cell Probes"},{"issue":"9","key":"697_CR58","doi-asserted-by":"publisher","first-page":"737","DOI":"10.1007\/s10157-023-02361-x","volume":"27","author":"E Okada","year":"2023","unstructured":"Okada E, Horinouchi T, Yamamura T, Aoto Y, Suzuki R, Ichikawa Y, et al. All reported non-canonical splice site variants in GLA cause aberrant splicing. Clin Exp Nephrol. 2023;27(9):737\u201346.","journal-title":"Clin Exp Nephrol"},{"issue":"3","key":"697_CR59","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1007\/s13353-018-0444-7","volume":"59","author":"A Anna","year":"2018","unstructured":"Anna A, Monika G. Splicing mutations in human genetic disorders: examples, detection, and confirmation. J Appl Genet. 2018;59(3):253\u201368.","journal-title":"J Appl Genet"},{"issue":"10","key":"697_CR60","doi-asserted-by":"publisher","first-page":"e380","DOI":"10.1038\/mtna.2016.88","volume":"5","author":"L Ferri","year":"2016","unstructured":"Ferri L, Covello G, Caciotti A, Guerrini R, Denti MA, Morrone A. Double-target antisense U1snRNAs correct mis-splicing due to c.639+861C>T and c.639+919G>A GLA deep intronic mutations. Mol Ther Nucl Acids. 2016;5(10):e380.","journal-title":"Mol Ther Nucl Acids"},{"issue":"4","key":"697_CR61","doi-asserted-by":"publisher","first-page":"994","DOI":"10.1086\/339431","volume":"70","author":"S Ishii","year":"2002","unstructured":"Ishii S, Nakao S, Minamikawa-Tachino R, Desnick RJ, Fan JQ. Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. Am J Hum Genet. 2002;70(4):994\u20131002.","journal-title":"Am J Hum Genet"},{"issue":"11","key":"697_CR62","doi-asserted-by":"publisher","first-page":"1311","DOI":"10.1038\/ejhg.2008.109","volume":"16","author":"C Filoni","year":"2008","unstructured":"Filoni C, Caciotti A, Carraresi L, Donati MA, Mignani R, Parini R, et al. Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients\u2019 fibroblasts results in Fabry disease. Eur J Hum Genet: EJHG. 2008;16(11):1311\u20137.","journal-title":"Eur J Hum Genet: EJHG"}],"container-title":["Human Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40246-024-00697-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s40246-024-00697-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40246-024-00697-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,28]],"date-time":"2024-11-28T04:07:26Z","timestamp":1732766846000},"score":1,"resource":{"primary":{"URL":"https:\/\/humgenomics.biomedcentral.com\/articles\/10.1186\/s40246-024-00697-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,28]]},"references-count":62,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["697"],"URL":"https:\/\/doi.org\/10.1186\/s40246-024-00697-3","relation":{},"ISSN":["1479-7364"],"issn-type":[{"value":"1479-7364","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,28]]},"assertion":[{"value":"22 August 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 November 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 November 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was approved by the Ethics Committee of Peking Union Medical College Hospital. The participants provided their written informed consent to participate in this study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"133"}}