{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T04:04:35Z","timestamp":1790395475056,"version":"4.1.0"},"reference-count":75,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2017,4,12]],"date-time":"2017-04-12T00:00:00Z","timestamp":1491955200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cell Tissue Res"],"published-print":{"date-parts":[[2017,7]]},"DOI":"10.1007\/s00441-017-2609-9","type":"journal-article","created":{"date-parts":[[2017,4,12]],"date-time":"2017-04-12T01:10:59Z","timestamp":1491959459000},"page":"53-62","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Pathomechanisms of renal Fabry disease"],"prefix":"10.1007","volume":"369","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1783-5552","authenticated-orcid":false,"given":"\u00d8ystein","family":"Eikrem","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rannveig","family":"Skrunes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camilla","family":"T\u00f8ndel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Leh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gunnar","family":"Houge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Einar","family":"Svarstad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans-Peter","family":"Marti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,4,12]]},"reference":[{"key":"2609_CR1","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/j.cca.2015.11.018","volume":"452","author":"M Abaoui","year":"2016","unstructured":"Abaoui M, Boutin M, Lavoie P, Auray-Blais C (2016) Tandem mass spectrometry multiplex analysis of methylated and non-methylated urinary Gb3 isoforms in Fabry disease patients. Clin Chim Acta 452:191\u2013198","journal-title":"Clin Chim Acta"},{"issue":"Suppl 2","key":"2609_CR2","doi-asserted-by":"crossref","first-page":"S134","DOI":"10.1097\/01.ASN.0000016684.07368.75","volume":"13","author":"J Alroy","year":"2002","unstructured":"Alroy J, Sabnis S, Kopp JB (2002) Renal pathology in Fabry disease. J Am Soc Nephrol 13(Suppl 2):S134\u2013138","journal-title":"J Am Soc Nephrol"},{"key":"2609_CR3","doi-asserted-by":"crossref","first-page":"1559","DOI":"10.1161\/01.STR.32.7.1559","volume":"32","author":"G Altarescu","year":"2001","unstructured":"Altarescu G, Moore DF, Pursley R, Campia U, Goldstein S, Bryant M, Panza JA, Schiffmann R (2001) Enhanced endothelium-dependent vasodilation in Fabry disease. Stroke 32:1559\u20131562","journal-title":"Stroke"},{"key":"2609_CR4","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1111\/j.1365-2133.1898.tb16317.x","volume":"10","author":"W Anderson","year":"1898","unstructured":"Anderson W (1898) A case of \u201cangeiokeratoma\u201d. Br J Dermatol 10:113\u2013117","journal-title":"Br J Dermatol"},{"key":"2609_CR5","doi-asserted-by":"crossref","first-page":"1906","DOI":"10.1016\/j.cca.2010.07.038","volume":"411","author":"C Auray-Blais","year":"2010","unstructured":"Auray-Blais C, Ntwari A, Clarke JT, Warnock DG, Oliveira JP, Young SP, Millington DS, Bichet DG, Sirrs S, West ML, Casey R, Hwu WL, Keutzer JM, Zhang XK, Gagnon R (2010) How well does urinary lyso-Gb3 function as a biomarker in Fabry disease? Clin Chim Acta 411:1906\u20131914","journal-title":"Clin Chim Acta"},{"key":"2609_CR6","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.cca.2016.07.016","volume":"461","author":"GB Biancini","year":"2016","unstructured":"Biancini GB, Jacques CE, Hammerschmidt T, de Souza HM, Donida B, Deon M, Vairo FP, Lourenco CM, Giugliani R, Vargas CR (2016) Biomolecules damage and redox status abnormalities in Fabry patients before and during enzyme replacement therapy. Clin Chim Acta 461:41\u201346","journal-title":"Clin Chim Acta"},{"key":"2609_CR7","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.mrgentox.2015.04.012","volume":"784\u2013785","author":"GB Biancini","year":"2015","unstructured":"Biancini GB, Moura DJ, Manini PR, Faverzani JL, Netto CB, Deon M, Giugliani R, Saffi J, Vargas CR (2015) DNA damage in Fabry patients: An investigation of oxidative damage and repair. Mutat Res Genet Toxicol Environ Mutagen 784\u2013785:31\u201336","journal-title":"Mutat Res Genet Toxicol Environ Mutagen"},{"key":"2609_CR8","doi-asserted-by":"crossref","first-page":"4859","DOI":"10.1073\/pnas.83.13.4859","volume":"83","author":"DF Bishop","year":"1986","unstructured":"Bishop DF, Calhoun DH, Bernstein HS, Hantzopoulos P, Quinn M, Desnick RJ (1986) Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme. Proc Natl Acad Sci U S A 83:4859\u20134863","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2609_CR9","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1056\/NEJM196705252762101","volume":"276","author":"RO Brady","year":"1967","unstructured":"Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L (1967) Enzymatic defect in Fabry\u2019s disease. Ceramidetrihexosidase deficiency. N Engl J Med 276:1163\u20131167","journal-title":"N Engl J Med"},{"issue":"Suppl 2","key":"2609_CR10","doi-asserted-by":"crossref","first-page":"S139","DOI":"10.1097\/01.ASN.0000016683.73778.78","volume":"13","author":"M Branton","year":"2002","unstructured":"Branton M, Schiffmann R, Kopp JB (2002a) Natural history and treatment of renal involvement in Fabry disease. J Am Soc Nephrol 13(Suppl 2):S139\u2013143","journal-title":"J Am Soc Nephrol"},{"key":"2609_CR11","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1097\/00005792-200203000-00003","volume":"81","author":"MH Branton","year":"2002","unstructured":"Branton MH, Schiffmann R, Sabnis SG, Murray GJ, Quirk JM, Altarescu G, Goldfarb L, Brady RO, Balow JE, Austin Iii HA, Kopp JB (2002b) Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 81:122\u2013138","journal-title":"Medicine (Baltimore)"},{"key":"2609_CR12","doi-asserted-by":"crossref","first-page":"589","DOI":"10.4161\/auto.6.5.11943","volume":"6","author":"M Chevrier","year":"2010","unstructured":"Chevrier M, Brakch N, Celine L, Genty D, Ramdani Y, Moll S, Djavaheri-Mergny M, Brasse-Lagnel C, Annie Laquerriere AL, Barbey F, Bekri S (2010) Autophagosome maturation is impaired in Fabry disease. Autophagy 6:589\u2013599","journal-title":"Autophagy"},{"key":"2609_CR13","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1681\/ASN.2006080822","volume":"18","author":"EI Christensen","year":"2007","unstructured":"Christensen EI, Zhou Q, Sorensen SS, Rasmussen AK, Jacobsen C, Feldt-Rasmussen U, Nielsen R (2007) Distribution of alpha-galactosidase A in normal human kidney and renal accumulation and distribution of recombinant alpha-galactosidase A in Fabry mice. J Am Soc Nephrol 18:698\u2013706","journal-title":"J Am Soc Nephrol"},{"key":"2609_CR14","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/S0065-2423(09)49003-6","volume":"49","author":"AM Das","year":"2009","unstructured":"Das AM, Naim HY (2009) Biochemical basis of Fabry disease with emphasis on mitochondrial function and protein trafficking. Adv Clin Chem 49:57\u201371","journal-title":"Adv Clin Chem"},{"key":"2609_CR15","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1136\/jmg.2005.036327","volume":"43","author":"PB Deegan","year":"2006","unstructured":"Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M, European FOSI (2006) Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 43:347\u2013352","journal-title":"J Med Genet"},{"key":"2609_CR16","series-title":"The metabolic and molecular bases of inherited disease","volume-title":"\u03b1-Galactosidase A deficiency: Fabry disease","author":"IY Desnick RJ","year":"2001","unstructured":"Desnick RJ IY, Eng CM (2001) \u03b1-Galactosidase A deficiency: Fabry disease, The metabolic and molecular bases of inherited disease. McGraw Hill, New York"},{"key":"2609_CR17","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1159\/000184389","volume":"46","author":"D Donati","year":"1987","unstructured":"Donati D, Novario R, Gastaldi L (1987) Natural history and treatment of uremia secondary to Fabry\u2019s disease: an European experience. Nephron 46:353\u2013359","journal-title":"Nephron"},{"key":"2609_CR18","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1111\/cge.12613","volume":"89","author":"L Echevarria","year":"2016","unstructured":"Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege AA, Eladari D, Jabbour F, Beldjord C, De Mazancourt P, Germain DP (2016) X-chromosome inactivation in female patients with Fabry disease. Clin Genet 89:44\u201354","journal-title":"Clin Genet"},{"key":"2609_CR19","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1086\/318809","volume":"68","author":"CM Eng","year":"2001","unstructured":"Eng CM, Banikazemi M, Gordon RE, Goldman M, Phelps R, Kim L, Gass A, Winston J, Dikman S, Fallon JT, Brodie S, Stacy CB, Mehta D, Parsons R, Norton K, O\u2019Callaghan M, Desnick RJ (2001) A phase 1\/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 68:711\u2013722","journal-title":"Am J Hum Genet"},{"key":"2609_CR20","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/BF01986897","volume":"43","author":"J Fabry","year":"1898","unstructured":"Fabry J (1898) Ein Beitrag zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae). Arch Dermatol Syph 43:187\u2013200","journal-title":"Arch Dermatol Syph"},{"key":"2609_CR21","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1212\/01.wnl.0000338566.54190.8a","volume":"72","author":"A Fellgiebel","year":"2009","unstructured":"Fellgiebel A, Keller I, Marin D, Muller MJ, Schermuly I, Yakushev I, Albrecht J, Bellhauser H, Kinateder M, Beck M, Stoeter P (2009) Diagnostic utility of different MRI and MR angiography measures in Fabry disease. Neurology 72:63\u201368","journal-title":"Neurology"},{"key":"2609_CR22","doi-asserted-by":"crossref","first-page":"2168","DOI":"10.1093\/ndt\/gfp528","volume":"25","author":"A Fogo","year":"2010","unstructured":"Fogo A, Bostad L, Bostad L, Svarstad E, Cook WJ, Moll S, Barbey F, Geldenhuys L, West M, Ferluga D, Vujkovac B, Howie AJ, Burns A, Reeve R, Waldek S, Noel LH, Grunfeld JP, Valbuena C, Oliveira JP, Muller J, Breunig F, Zhang X, Warnock DG (2010) Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN). Nephrol Dial Transplant 25:2168\u20132177","journal-title":"Nephrol Dial Transplant"},{"key":"2609_CR23","unstructured":"Gal A, Schafer E, Rohard I (2006) The genetic basis of Fabry disease. Chapter 33 in. Mehta A, Beck M, Sunder-Plassmann G (eds) Fabry Disease: Perspectives from 5 Years of FOS. Oxford University Press, Oxford"},{"key":"2609_CR24","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1172-5-30","volume":"5","author":"DP Germain","year":"2010","unstructured":"Germain DP (2010) Fabry disease. Orphanet J Rare Dis 5:30","journal-title":"Orphanet J Rare Dis"},{"key":"2609_CR25","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1056\/NEJMoa1510198","volume":"375","author":"DP Germain","year":"2016","unstructured":"Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R (2016) Treatment of Fabry\u2019s Disease with the Pharmacologic Chaperone Migalastat. N Engl J Med 375:545\u2013555","journal-title":"N Engl J Med"},{"key":"2609_CR26","doi-asserted-by":"crossref","first-page":"1547","DOI":"10.1681\/ASN.2006080816","volume":"18","author":"DP Germain","year":"2007","unstructured":"Germain DP, Waldek S, Banikazemi M, Bushinsky DA, Charrow J, Desnick RJ, Lee P, Loew T, Vedder AC, Abichandani R, Wilcox WR, Guffon N (2007) Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 18:1547\u20131557","journal-title":"J Am Soc Nephrol"},{"key":"2609_CR27","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/ki.1978.32","volume":"13","author":"MC Gubler","year":"1978","unstructured":"Gubler MC, Lenoir G, Grunfeld JP, Ulmann A, Droz D, Habib R (1978) Early renal changes in hemizygous and heterozygous patients with Fabry\u2019s disease. Kidney Int 13:223\u2013235","journal-title":"Kidney Int"},{"key":"2609_CR28","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1203\/PDR.0b013e318183f132","volume":"64","author":"RJ Hopkin","year":"2008","unstructured":"Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP, Lemay R, Tylki-Szymanska A, Wilcox WR (2008) Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res 64:550\u2013555","journal-title":"Pediatr Res"},{"key":"2609_CR29","doi-asserted-by":"crossref","first-page":"e0136442","DOI":"10.1371\/journal.pone.0136442","volume":"10","author":"YJ Jeon","year":"2015","unstructured":"Jeon YJ, Jung N, Park JW, Park HY, Jung SC (2015) Epithelial-Mesenchymal Transition in Kidney Tubular Epithelial Cells Induced by Globotriaosylsphingosine and Globotriaosylceramide. PLoS ONE 10:e0136442","journal-title":"PLoS ONE"},{"key":"2609_CR30","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1038\/ki.2014.126","volume":"86","author":"DA Joly","year":"2014","unstructured":"Joly DA, Grunfeld JP (2014) 3-Nitrotyrosine as a biomarker for vascular involvement in Fabry disease. Kidney Int 86:5\u20137","journal-title":"Kidney Int"},{"key":"2609_CR31","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/s00441-011-1169-7","volume":"347","author":"HS Lee","year":"2012","unstructured":"Lee HS (2012) Mechanisms and consequences of TGF-\u00df overexpression by podocytes in progressive podocyte disease. Cell Tissue Res 347:129\u2013140","journal-title":"Cell Tissue Res"},{"key":"2609_CR32","doi-asserted-by":"crossref","first-page":"e63506","DOI":"10.1371\/journal.pone.0063506","volume":"8","author":"MC Liebau","year":"2013","unstructured":"Liebau MC, Braun F, Hopker K, Weitbrecht C, Bartels V, Muller RU, Brodesser S, Saleem MA, Benzing T, Schermer B, Cybulla M, Kurschat CE (2013) Dysregulated autophagy contributes to podocyte damage in Fabry\u2019s disease. PLoS ONE 8:e63506","journal-title":"PLoS ONE"},{"key":"2609_CR33","doi-asserted-by":"crossref","unstructured":"Lubanda et al. (2009) Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease. Genet Med 11:256\u2013264","DOI":"10.1097\/GIM.0b013e3181981d82"},{"key":"2609_CR34","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.ymgme.2004.01.011","volume":"82","author":"T Lucke","year":"2004","unstructured":"Lucke T, Hoppner W, Schmidt E, Illsinger S, Das AM (2004) Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts. Mol Genet Metab 82:93\u201397","journal-title":"Mol Genet Metab"},{"key":"2609_CR35","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1136\/jmg.38.11.750","volume":"38","author":"KD MacDermot","year":"2001","unstructured":"MacDermot KD, Holmes A, Miners AH (2001) Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 38:750\u2013760","journal-title":"J Med Genet"},{"key":"2609_CR36","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1038\/ki.2010.484","volume":"79","author":"B Najafian","year":"2011","unstructured":"Najafian B, Svarstad E, Bostad L, Gubler MC, T\u00f8ndel C, Whitley C, Mauer M (2011) Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease. Kidney Int 79:663\u2013670","journal-title":"Kidney Int"},{"key":"2609_CR37","doi-asserted-by":"crossref","first-page":"e0152812","DOI":"10.1371\/journal.pone.0152812","volume":"11","author":"B Najafian","year":"2016","unstructured":"Najafian B, T\u00f8ndel C, Svarstad E, Sokolovkiy A, Smith K, Mauer M (2016) One Year of Enzyme Replacement Therapy Reduces Globotriaosylceramide Inclusions in Podocytes in Male Adult Patients with Fabry Disease. PLoS ONE 11:e0152812","journal-title":"PLoS ONE"},{"key":"2609_CR38","doi-asserted-by":"crossref","first-page":"e36373","DOI":"10.1371\/journal.pone.0036373","volume":"7","author":"M Namdar","year":"2012","unstructured":"Namdar M, Gebhard C, Studiger R, Shi Y, Mocharla P, Schmied C, Brugada P, Luscher TF, Camici GG (2012) Globotriaosylsphingosine accumulation and not alpha-galactosidase-A deficiency causes endothelial dysfunction in Fabry disease. PLoS ONE 7:e36373","journal-title":"PLoS ONE"},{"key":"2609_CR39","doi-asserted-by":"crossref","first-page":"2540","DOI":"10.1073\/pnas.94.6.2540","volume":"94","author":"T Ohshima","year":"1997","unstructured":"Ohshima T, Murray GJ, Swaim WD, Longenecker G, Quirk JM, Cardarelli CO, Sugimoto Y, Pastan I, Gottesman MM, Brady RO, Kulkarni AB (1997) alpha-Galactosidase A deficient mice: a model of Fabry disease. Proc Natl Acad Sci U S A 94:2540\u20132544","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2609_CR40","doi-asserted-by":"crossref","first-page":"H1133","DOI":"10.1152\/ajpheart.00929.2008","volume":"296","author":"JL Park","year":"2009","unstructured":"Park JL, Shu L, Shayman JA (2009) Differential involvement of COX1 and COX2 in the vasculopathy associated with the alpha-galactosidase A-knockout mouse. Am J Physiol Heart Circ Physiol 296:H1133\u20131140","journal-title":"Am J Physiol Heart Circ Physiol"},{"key":"2609_CR41","first-page":"02016","volume":"00283","author":"EM Pereira","year":"2016","unstructured":"Pereira EM, Labilloy A, Eshbach ML, Roy A, Subramanya AR, Monte S, Labilloy G, Weisz OA (2016a) Characterization and Phosphoproteomic Analysis of a Human Immortalized Podocyte Model of Fabry Disease Generated Using the CRISPR\/Cas9 Technology. Am J Physiol Renal Physiol Ajprenal 00283:02016","journal-title":"Am J Physiol Renal Physiol Ajprenal"},{"key":"2609_CR42","first-page":"49","volume":"38","author":"EM Pereira","year":"2016","unstructured":"Pereira EM, Silva AS, Labilloy A, Monte Neto JT, Monte SJ (2016b) Podocyturia in Fabry disease. J Bras Nefrol 38:49\u201353","journal-title":"J Bras Nefrol"},{"key":"2609_CR43","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1093\/ndt\/gfu273","volume":"30","author":"A Pisani","year":"2015","unstructured":"Pisani A, Sabbatini M, Duro G, Colomba P, Riccio E (2015) Antiproteinuric effect of add-on paricalcitol in Fabry disease patients: a prospective observational study. Nephrol Dial Transplant 30:661\u2013666","journal-title":"Nephrol Dial Transplant"},{"key":"2609_CR44","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1111\/cge.12386","volume":"86","author":"A Pisani","year":"2014","unstructured":"Pisani A, Visciano B, Imbriaco M, Di Nuzzi A, Mancini A, Marchetiello C, Riccio E (2014) The kidney in Fabry\u2019s disease. Clin Genet 86:301\u2013309","journal-title":"Clin Genet"},{"key":"2609_CR45","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1093\/ndt\/gft452","volume":"29","author":"T Prabakaran","year":"2014","unstructured":"Prabakaran T, Birn H, Bibby BM, Regeniter A, Sorensen SS, Feldt-Rasmussen U, Nielsen R, Christensen EI (2014) Long-term enzyme replacement therapy is associated with reduced proteinuria and preserved proximal tubular function in women with Fabry disease. Nephrol Dial Transplant 29:619\u2013625","journal-title":"Nephrol Dial Transplant"},{"key":"2609_CR46","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1056\/NEJMc1415448","volume":"373","author":"DC Rockey","year":"2015","unstructured":"Rockey DC, Bell PD, Hill JA (2015) Fibrosis--A Common Pathway to Organ Injury and Failure. N Engl J Med 373:96","journal-title":"N Engl J Med"},{"key":"2609_CR47","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1186\/1750-1172-8-47","volume":"8","author":"SM Rombach","year":"2013","unstructured":"Rombach SM, Smid BE, Bouwman MG, Linthorst GE, Dijkgraaf MG, Hollak CE (2013) Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain. Orphanet J Rare Dis 8:47","journal-title":"Orphanet J Rare Dis"},{"key":"2609_CR48","doi-asserted-by":"crossref","first-page":"5720","DOI":"10.1093\/hmg\/ddv291","volume":"24","author":"MD Sanchez-Nino","year":"2015","unstructured":"Sanchez-Nino MD, Carpio D, Sanz AB, Ruiz-Ortega M, Mezzano S, Ortiz A (2015) Lyso-Gb3 activates Notch1 in human podocytes. Hum Mol Genet 24:5720\u20135732","journal-title":"Hum Mol Genet"},{"key":"2609_CR49","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.1093\/ndt\/gfq306","volume":"26","author":"MD Sanchez-Nino","year":"2011","unstructured":"Sanchez-Nino MD, Sanz AB, Carrasco S, Saleem MA, Mathieson PW, Valdivielso JM, Ruiz-Ortega M, Egido J, Ortiz A (2011) Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy. Nephrol Dial Transplant 26:1797\u20131802","journal-title":"Nephrol Dial Transplant"},{"key":"2609_CR50","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/B978-0-444-62702-5.00017-2","volume":"132","author":"R Schiffmann","year":"2015","unstructured":"Schiffmann R (2015) Fabry disease. Handb Clin Neurol 132:231\u2013248","journal-title":"Handb Clin Neurol"},{"key":"2609_CR51","doi-asserted-by":"crossref","first-page":"2743","DOI":"10.1001\/jama.285.21.2743","volume":"285","author":"R Schiffmann","year":"2001","unstructured":"Schiffmann R, Kopp JB, Austin HA 3rd, Sabnis S, Moore DF, Weibel T, Balow JE, Brady RO (2001) Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 285:2743\u20132749","journal-title":"JAMA"},{"key":"2609_CR52","doi-asserted-by":"crossref","unstructured":"Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ (2009) Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 24:2102\u20132111","DOI":"10.1093\/ndt\/gfp031"},{"key":"2609_CR53","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1159\/000444926","volume":"134","author":"JA Shayman","year":"2016","unstructured":"Shayman JA (2016) Targeting Glycosphingolipid Metabolism to Treat Kidney Disease. Nephron 134:37\u201342","journal-title":"Nephron"},{"key":"2609_CR54","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.ymgme.2008.06.016","volume":"95","author":"JS Shen","year":"2008","unstructured":"Shen JS, Meng XL, Moore DF, Quirk JM, Shayman JA, Schiffmann R, Kaneski CR (2008) Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol Genet Metab 95:163\u2013168","journal-title":"Mol Genet Metab"},{"key":"2609_CR55","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1038\/ki.2013.520","volume":"86","author":"L Shu","year":"2014","unstructured":"Shu L, Vivekanandan-Giri A, Pennathur S, Smid BE, Aerts JM, Hollak CE, Shayman JA (2014) Establishing 3-nitrotyrosine as a biomarker for the vasculopathy of Fabry disease. Kidney Int 86:58\u201366","journal-title":"Kidney Int"},{"key":"2609_CR56","doi-asserted-by":"publisher","unstructured":"Skrunes R, Svarstad E, Kampevold Larsen K, Leh S, T\u00f8ndel C (2016) Reaccumulation of globotriaosylceramide in podocytes after agalsidase dose reduction in young Fabry patients. Nephrol Dial Transplant. doi: 10.1093\/ndt\/gfw094","DOI":"10.1093\/ndt\/gfw094"},{"key":"2609_CR57","unstructured":"Sunder-Plassmann G (2006) Renal manifestations of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G (eds) Fabry Disease: Perspectives from 5 Years of FOS. Oxford University Press, Oxford"},{"key":"2609_CR58","doi-asserted-by":"crossref","first-page":"3148","DOI":"10.1016\/S0021-9258(18)51888-3","volume":"238","author":"CC Sweeley","year":"1963","unstructured":"Sweeley CC, Klionsky B (1963) Fabry\u2019s Disease: Classification as a Sphingolipidosis and Partial Characterization of a Novel Glycolipid. J Biol Chem 238:3148\u20133150","journal-title":"J Biol Chem"},{"key":"2609_CR59","doi-asserted-by":"crossref","unstructured":"Taguchi A, Maruyama H, Nameta M, Yamamoto T, Matsuda J, Kulkarni AB, Yoshioka H, Ishii S (2013) A symptomatic Fabry disease mouse model generated by inducing globotriaosylceramide synthesis. Biochem J 456:373\u2013383","DOI":"10.1042\/BJ20130825"},{"key":"2609_CR60","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1038\/ki.2008.576","volume":"75","author":"T Thomaidis","year":"2009","unstructured":"Thomaidis T, Relle M, Golbas M, Brochhausen C, Galle PR, Beck M, Schwarting A (2009) Downregulation of alpha-galactosidase A upregulates CD77: functional impact for Fabry nephropathy. Kidney Int 75:399\u2013407","journal-title":"Kidney Int"},{"key":"2609_CR61","doi-asserted-by":"crossref","first-page":"1933","DOI":"10.1046\/j.1523-1755.2002.00675.x","volume":"62","author":"BL Thurberg","year":"2002","unstructured":"Thurberg BL, Rennke H, Colvin RB, Dikman S, Gordon RE, Collins AB, Desnick RJ, O\u2019Callaghan M (2002) Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 62:1933\u20131946","journal-title":"Kidney Int"},{"key":"2609_CR62","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1053\/j.ajkd.2007.12.032","volume":"51","author":"C T\u00f8ndel","year":"2008","unstructured":"T\u00f8ndel C, Bostad L, Hirth A, Svarstad E (2008) Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis 51:767\u2013776","journal-title":"Am J Kidney Dis"},{"key":"2609_CR63","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1681\/ASN.2012030316","volume":"24","author":"C T\u00f8ndel","year":"2013","unstructured":"T\u00f8ndel C, Bostad L, Larsen KK, Hirth A, Vikse BE, Houge G, Svarstad E (2013) Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol 24:137\u2013148","journal-title":"J Am Soc Nephrol"},{"key":"2609_CR64","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1159\/000369309","volume":"129","author":"C T\u00f8ndel","year":"2015","unstructured":"T\u00f8ndel C, Kanai T, Larsen KK, Ito S, Politei JM, Warnock DG, Svarstad E (2015) Foot process effacement is an early marker of nephropathy in young classic Fabry patients without albuminuria. Nephron 129:16\u201321","journal-title":"Nephron"},{"key":"2609_CR65","doi-asserted-by":"crossref","first-page":"1591","DOI":"10.2215\/CJN.02150212","volume":"7","author":"C T\u00f8ndel","year":"2012","unstructured":"T\u00f8ndel C, Vikse BE, Bostad L, Svarstad E (2012) Safety and complications of percutaneous kidney biopsies in 715 children and 8573 adults in Norway 1988\u20132010. Clin J Am Soc Nephrol 7:1591\u20131597","journal-title":"Clin J Am Soc Nephrol"},{"key":"2609_CR66","doi-asserted-by":"crossref","first-page":"S29","DOI":"10.1038\/ki.2008.522","volume":"74","author":"R Torra","year":"2008","unstructured":"Torra R (2008) Renal manifestations in Fabry disease and therapeutic options. Kidney Int Suppl 74:S29\u2013S32","journal-title":"Kidney Int Suppl"},{"key":"2609_CR67","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1186\/s12967-016-1049-8","volume":"14","author":"H Trimarchi","year":"2016","unstructured":"Trimarchi H, Canzonieri R, Schiel A, Costales-Collaguazo C, Politei J, Stern A, Paulero M, Rengel T, Andrews J, Forrester M, Lombi M, Pomeranz V, Iriarte R, Muryan A, Zotta E, Sanchez-Nino MD, Ortiz A (2016) Increased urinary CD80 excretion and podocyturia in Fabry disease. J Transl Med 14:289","journal-title":"J Transl Med"},{"key":"2609_CR68","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1007\/s10545-006-0484-8","volume":"30","author":"AC Vedder","year":"2007","unstructured":"Vedder AC, Linthorst GE, van Breemen MJ, Groener JE, Bemelman FJ, Strijland A, Mannens MM, Aerts JM, Hollak CE (2007) The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels. J Inherit Metab Dis 30:68\u201378","journal-title":"J Inherit Metab Dis"},{"key":"2609_CR69","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1007\/s10545-006-0196-0","volume":"29","author":"AC Vedder","year":"2006","unstructured":"Vedder AC, Strijland A, vd Bergh Weerman MA, Florquin S, Aerts JM, Hollak CE (2006) Manifestations of Fabry disease in placental tissue. J Inherit Metab Dis 29:106\u2013111","journal-title":"J Inherit Metab Dis"},{"key":"2609_CR70","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1097\/GIM.0b013e3181bb05bb","volume":"11","author":"S Waldek","year":"2009","unstructured":"Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P (2009) Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet Med 11:790\u2013796","journal-title":"Genet Med"},{"key":"2609_CR71","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1186\/1750-1172-8-116","volume":"8","author":"F Weidemann","year":"2013","unstructured":"Weidemann F, Sanchez-Nino MD, Politei J, Oliveira JP, Wanner C, Warnock DG, Ortiz A (2013) Fibrosis: a key feature of Fabry disease with potential therapeutic implications. Orphanet J Rare Dis 8:116","journal-title":"Orphanet J Rare Dis"},{"key":"2609_CR72","doi-asserted-by":"crossref","first-page":"e0124987","DOI":"10.1371\/journal.pone.0124987","volume":"10","author":"FA Wijburg","year":"2015","unstructured":"Wijburg FA, Benichou B, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini C, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, T\u00f8ndel C, Tylki-Szymanska A, Ramaswami U (2015) Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial. PLoS ONE 10:e0124987","journal-title":"PLoS ONE"},{"key":"2609_CR73","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1086\/422366","volume":"75","author":"WR Wilcox","year":"2004","unstructured":"Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, Desnick RJ, Germain DP, International Fabry Disease Study G (2004) Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 75:65\u201374","journal-title":"Am J Hum Genet"},{"key":"2609_CR74","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.ymgme.2007.09.013","volume":"93","author":"WR Wilcox","year":"2008","unstructured":"Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP, Fabry R (2008) Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 93:112\u2013128","journal-title":"Mol Genet Metab"},{"key":"2609_CR75","first-page":"177","volume":"31","author":"D Wise","year":"1962","unstructured":"Wise D, Wallace HJ, Jellinek EH (1962) Angiokeratoma corporis diffusum. A clinical study of eight affected families. Q J Med 31:177\u2013206","journal-title":"Q J Med"}],"container-title":["Cell and Tissue Research"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00441-017-2609-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00441-017-2609-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00441-017-2609-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,27]],"date-time":"2022-07-27T11:52:15Z","timestamp":1658922735000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00441-017-2609-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,12]]},"references-count":75,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,7]]}},"alternative-id":["2609"],"URL":"https:\/\/doi.org\/10.1007\/s00441-017-2609-9","relation":{},"ISSN":["0302-766X","1432-0878"],"issn-type":[{"value":"0302-766X","type":"print"},{"value":"1432-0878","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,12]]}}}