{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:52:39Z","timestamp":1792788759767,"version":"4.5.0"},"reference-count":51,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2021,11,9]],"date-time":"2021-11-09T00:00:00Z","timestamp":1636416000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,11,9]],"date-time":"2021-11-09T00:00:00Z","timestamp":1636416000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"an received lecturing honoraria and research support from sanofi genzyme, takeda and amicus."}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Endocrine"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Context<\/jats:title>\n                <jats:p>Fabry Disease (FD) is a rare X-linked storage disease characterised by a-galactosidase A deficiency and diffuse organ accumulation of glycosphingolipids. Enzyme replacement and chaperone therapies are only partially effective. It remains unclear if FD-related endocrine disorders contribute to the observed morbidity.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Objective<\/jats:title>\n                <jats:p>To investigate the function of the endocrine system in patients with FD.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Design<\/jats:title>\n                <jats:p>We conducted an observational prospective study from 2017 to 2020.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Setting and patients<\/jats:title>\n                <jats:p>We included 77 patients with genetically confirmed FD (27 men, 20\/27 Classic, 7\/26 Late Onset phenotype, 50 women, 41\/50 and 9\/50 respectively), who are systematically followed by our reference centre.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>36\/77 (46.8%) patients had VitD deficiency (25(0H)VitD\u2009&lt;20\u2009\u03bcg\/L) despite the fact that 19\/36 (52.8%) were substituted with cholecalciferol. Only 21\/77 (27.3%) patients had normal VitD levels without VitD substitution. 11\/77 (14.3%) had significant hypophosphatemia (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.80\u2009mmol\/L). Three new cases (3.9%) of subclinical, two (2.6%) of overt and six (7.8%) of known hypothyroidism were identified. Of note, men had significantly higher renin levels than women [61.4 (26.1\u2013219.6) vs.25.4 (10.9\u201348.0)\u2009mU\/L, <jats:italic>p<\/jats:italic>\u2009=\u20090.003]. There were no major abnormalities in adrenal, growth and sex-hormone axes. Patients of Classic phenotype had significantly higher High-Density Lipoprotein Cholesterol (HDL-C) levels (<jats:italic>p<\/jats:italic>\u2009=\u20090.002) and in men those levels were positively correlated with globotriaosylsphingosin (Lyso-Gb3) values. 10\/77 (13%) of the patients were underweight.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>VitD supplementation should be considered for all patients with FD. Thyroid screening should be routinely performed. Malnutrition should be prevented or treated, particularly in Classic phenotype patients. Overall, our data suggest that FD specialists should actively seek and diagnose endocrine disorders in their patients.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s12020-021-02918-4","type":"journal-article","created":{"date-parts":[[2021,11,9]],"date-time":"2021-11-09T06:08:56Z","timestamp":1636438136000},"page":"728-739","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Endocrine disorders in patients with Fabry disease: insights from a reference centre prospective study"],"prefix":"10.1007","volume":"75","author":[{"given":"Christina","family":"Bothou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felix","family":"Beuschlein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albina","family":"Nowak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,11,9]]},"reference":[{"key":"2918_CR1","doi-asserted-by":"publisher","first-page":"1427","DOI":"10.1016\/S0140-6736(08)61589-5","volume":"372","author":"YA Zarate","year":"2008","unstructured":"Y.A. Zarate, R.J. Hopkin, Fabry\u2019s disease. Lancet 372, 1427\u20131435 (2008)","journal-title":"Lancet"},{"key":"2918_CR2","doi-asserted-by":"publisher","first-page":"338","DOI":"10.7326\/0003-4819-138-4-200302180-00014","volume":"138","author":"RJ Desnick","year":"2003","unstructured":"R.J. Desnick, R. Brady, J. Barranger et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann. Intern. Med. 138, 338\u2013346 (2003)","journal-title":"Ann. Intern. Med."},{"key":"2918_CR3","doi-asserted-by":"publisher","first-page":"1631","DOI":"10.1681\/ASN.2016090964","volume":"28","author":"M Arends","year":"2017","unstructured":"M. Arends, C. Wanner, D. Hughes et al. Characterization of classical and nonclassical Fabry disease: a multicenter study. J. Am. Soc. Nephrol. 28, 1631\u20131641 (2017)","journal-title":"J. Am. Soc. Nephrol."},{"key":"2918_CR4","unstructured":"Deegan P.B., Bahner F., Barba M., Hughes D.A., Beck M. Fabry disease in females: clinical characteristics and effects of enzyme replacement therapy. In: Mehta A., Beck M., Sunder-Plassmann G., eds. Fabry Disease: Perspectives from 5 Years of FOS. Oxford, 2006."},{"key":"2918_CR5","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1007\/s40265-019-01090-4","volume":"79","author":"EH McCafferty","year":"2019","unstructured":"E.H. McCafferty, L.J. Scott, Migalastat: a review in Fabry disease. Drugs 79, 543\u2013554 (2019)","journal-title":"Drugs"},{"key":"2918_CR6","doi-asserted-by":"publisher","first-page":"e15033","DOI":"10.1371\/journal.pone.0015033","volume":"5","author":"J Marshall","year":"2010","unstructured":"J. Marshall, K.M. Ashe, D. Bangari et al. Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease. PLoS One 5, e15033 (2010)","journal-title":"PLoS One"},{"key":"2918_CR7","doi-asserted-by":"publisher","first-page":"96","DOI":"10.2174\/1566523218666180404161315","volume":"18","author":"I Simonetta","year":"2018","unstructured":"I. Simonetta, A. Tuttolomondo, T. Di Chiara et al. Genetics and gene therapy of Anderson-Fabry disease. Curr. Gene Ther. 18, 96\u2013106 (2018)","journal-title":"Curr. Gene Ther."},{"key":"2918_CR8","doi-asserted-by":"publisher","first-page":"100454","DOI":"10.1016\/j.ymgmr.2019.100454","volume":"19","author":"DP Germain","year":"2019","unstructured":"D.P. Germain, P.M. Elliott, B. Falissard et al. The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: a systematic literature review by a European panel of experts. Mol. Genet. Metab. Rep. 19, 100454 (2019)","journal-title":"Mol. Genet. Metab. Rep."},{"key":"2918_CR9","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1159\/000464312","volume":"42","author":"A Nowak","year":"2017","unstructured":"A. Nowak, G. Koch, U. Huynh-Do, M. Siegenthaler, H.P. Marti, M. Pfister, Disease progression modeling to evaluate the effects of enzyme replacement therapy on kidney function in adult patients with the classic phenotype of Fabry disease. Kidney Blood Press Res. 42, 1\u201315 (2017)","journal-title":"Kidney Blood Press Res."},{"key":"2918_CR10","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1111\/joim.12077","volume":"274","author":"F Weidemann","year":"2013","unstructured":"F. Weidemann, M. Niemann, S. Stork et al. Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications. J. Intern. Med. 274, 331\u2013341 (2013)","journal-title":"J. Intern. Med."},{"key":"2918_CR11","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1016\/j.ijcard.2017.09.027","volume":"249","author":"M Siegenthaler","year":"2017","unstructured":"M. Siegenthaler, U. Huynh-Do, P. Krayenbuehl et al. Impact of cardio-renal syndrome on adverse outcomes in patients with Fabry disease in a long-term follow-up. Int. J. Cardiol. 249, 261\u2013267 (2017)","journal-title":"Int. J. Cardiol."},{"key":"2918_CR12","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-47","volume":"8","author":"SM Rombach","year":"2013","unstructured":"S.M. Rombach, B.E. Smid, M.G. Bouwman, G.E. Linthorst, M.G. Dijkgraaf, C.E. Hollak, Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain. Orphanet J. Rare Dis. 8, 47 (2013)","journal-title":"Orphanet J. Rare Dis."},{"key":"2918_CR13","doi-asserted-by":"publisher","first-page":"326","DOI":"10.1002\/jimd.12167","volume":"43","author":"A Nowak","year":"2020","unstructured":"A. Nowak, U. Huynh-Do, P.A. Krayenbuehl, F. Beuschlein, R. Schiffmann, F. Barbey, Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort. J. Inherit. Metab. Dis. 43, 326\u2013333 (2020)","journal-title":"J. Inherit. Metab. Dis."},{"key":"2918_CR14","doi-asserted-by":"publisher","first-page":"2812","DOI":"10.1073\/pnas.0712309105","volume":"105","author":"JM Aerts","year":"2008","unstructured":"J.M. Aerts, J.E. Groener, S. Kuiper et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc. Natl. Acad. Sci .USA 105, 2812\u20132817 (2008)","journal-title":"Proc. Natl. Acad. Sci .USA"},{"key":"2918_CR15","first-page":"107338","volume":"2020","author":"A Nowak","year":"2021","unstructured":"A.Nowak, F.Beuschlein, V.Sivasubramaniam, D.Kasper, D.G.Warnock, Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease. J. Med. Genet. 2020, 107338 (2021).","journal-title":"J. Med. Genet."},{"key":"2918_CR16","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1002\/path.1711410203","volume":"141","author":"M Nistal","year":"1983","unstructured":"M. Nistal, R. Paniagua, M.L. Picazo, Testicular and epididymal involvement in Fabry\u2019s disease. J. Pathol. 141, 113\u2013124 (1983)","journal-title":"J. Pathol."},{"key":"2918_CR17","doi-asserted-by":"publisher","first-page":"172","DOI":"10.2169\/internalmedicine.33.172","volume":"33","author":"K Tojo","year":"1994","unstructured":"K. Tojo, M. Oota, H. Honda, T. Shibasaki, O. Sakai, Possible thyroidal involvement in a case of Fabry disease. Intern. Med. 33, 172\u2013176 (1994)","journal-title":"Intern. Med."},{"key":"2918_CR18","doi-asserted-by":"publisher","first-page":"4319","DOI":"10.1210\/jc.2006-0858","volume":"91","author":"A Faggiano","year":"2006","unstructured":"A. Faggiano, A. Pisani, F. Milone et al. Endocrine dysfunction in patients with Fabry disease. J. Clin. Endocrinol. Metab. 91, 4319\u20134325 (2006)","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"2918_CR19","doi-asserted-by":"publisher","first-page":"1025","DOI":"10.1111\/j.1742-1241.2005.00620.x","volume":"59","author":"AC Hauser","year":"2005","unstructured":"A.C. Hauser, A. Gessl, F. Harm et al. Hormonal profile and fertility in patients with Anderson-Fabry disease. Int. J. Clin. Pract. 59, 1025\u20131028 (2005)","journal-title":"Int. J. Clin. Pract."},{"key":"2918_CR20","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1007\/s12020-015-0604-z","volume":"50","author":"L Maione","year":"2015","unstructured":"L. Maione, F. Tortora, R. Modica et al. Pituitary function and morphology in Fabry disease. Endocrine 50, 483\u2013488 (2015)","journal-title":"Endocrine"},{"key":"2918_CR21","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1007\/s10545-005-0003-3","volume":"28","author":"AC Hauser","year":"2005","unstructured":"A.C. Hauser, A. Gessl, M. Lorenz, T. Voigtlander, M. Fodinger, G. Sunder-Plassmann, High prevalence of subclinical hypothyroidism in patients with Anderson-Fabry disease. J. Inherit. Metab. Dis. 28, 715\u2013722 (2005)","journal-title":"J. Inherit. Metab. Dis."},{"key":"2918_CR22","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1016\/j.ymgme.2017.07.002","volume":"123","author":"A Nowak","year":"2018","unstructured":"A. Nowak, T.P. Mechtler, T. Hornemann et al. Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease. Mol. Genet. Metab. 123, 148\u2013153 (2018)","journal-title":"Mol. Genet. Metab."},{"key":"2918_CR23","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1210\/jc.2015-1700","volume":"101","author":"NS Ospina","year":"2016","unstructured":"N.S. Ospina, A. Al Nofal, I. Bancos et al. ACTH stimulation tests for the diagnosis of adrenal insufficiency: systematic review and meta-analysis. J. Clin. Endocr. Metab. 101, 427\u2013434 (2016)","journal-title":"J. Clin. Endocr. Metab."},{"key":"2918_CR24","doi-asserted-by":"publisher","first-page":"744","DOI":"10.1111\/cen.13559","volume":"88","author":"AS Cross","year":"2018","unstructured":"A.S. Cross, E. Helen Kemp, A. White et al. International survey on high- and low-dose Synacthen test and assessment of accuracy in preparing low-dose synacthen. Clin. Endocrinol. 88, 744\u2013751 (2018)","journal-title":"Clin. Endocrinol."},{"key":"2918_CR25","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1016\/S0025-6196(11)62105-8","volume":"76","author":"VM Montori","year":"2001","unstructured":"V.M. Montori, G.L. Schwartz, A.B. Chapman, E. Boerwinkle, S.T. Turner, Validity of the aldosterone-renin ratio used to screen for primary aldosteronism. Mayo Clin. Proc. 76, 877\u2013882 (2001)","journal-title":"Mayo Clin. Proc."},{"key":"2918_CR26","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1016\/j.ymgme.2017.06.006","volume":"121","author":"A Nowak","year":"2017","unstructured":"A. Nowak, T. Mechtler, D.C. Kasper, R.J. Desnick, Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease. Mol. Genet. Metab. 121, 320\u2013324 (2017)","journal-title":"Mol. Genet. Metab."},{"key":"2918_CR27","doi-asserted-by":"publisher","first-page":"S19","DOI":"10.1016\/j.jpeds.2009.07.003","volume":"155","author":"AM Martins","year":"2009","unstructured":"A.M. Martins, V. D\u2019Almeida, S.O. Kyosen et al. Guidelines to diagnosis and monitoring of Fabry disease and review of treatment experiences. J. Pediatr. 155, S19\u2013S31 (2009)","journal-title":"J. Pediatr."},{"key":"2918_CR28","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1007\/s10545-013-9653-8","volume":"37","author":"C Drechsler","year":"2014","unstructured":"C. Drechsler, B. Schmiedeke, M. Niemann et al. Potential role of vitamin D deficiency on Fabry cardiomyopathy. J. Inherit. Metab. Dis. 37, 289\u2013295 (2014)","journal-title":"J. Inherit. Metab. Dis."},{"key":"2918_CR29","doi-asserted-by":"publisher","first-page":"51","DOI":"10.4161\/derm.24494","volume":"5","author":"M Wacker","year":"2013","unstructured":"M. Wacker, M.F. Holick, Sunlight and vitamin D: a global perspective for health. Dermatoendocrinology 5, 51\u2013108 (2013)","journal-title":"Dermatoendocrinology"},{"key":"2918_CR30","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1111\/j.1525-1470.1995.tb00161.x","volume":"12","author":"ED Shelley","year":"1995","unstructured":"E.D. Shelley, W.B. Shelley, T.W. Kurczynski, Painful fingers, heat intolerance, and telangiectases of the ear: easily ignored childhood signs of Fabry disease. Pediatr. Dermatol. 12, 215\u2013219 (1995)","journal-title":"Pediatr. Dermatol."},{"key":"2918_CR31","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1016\/j.ymgme.2016.05.009","volume":"118","author":"O Lidove","year":"2016","unstructured":"O. Lidove, F. Barbey, D.M. Niu et al. Fabry in the older patient: clinical consequences and possibilities for treatment. Mol. Genet. Metab. 118, 319\u2013325 (2016)","journal-title":"Mol. Genet. Metab."},{"key":"2918_CR32","doi-asserted-by":"publisher","first-page":"e0180581","DOI":"10.1371\/journal.pone.0180581","volume":"12","author":"R Liguori","year":"2017","unstructured":"R. Liguori, A. Incensi, S. de Pasqua et al. Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy. PLoS One 12, e0180581 (2017)","journal-title":"PLoS One"},{"key":"2918_CR33","doi-asserted-by":"publisher","first-page":"e0166484","DOI":"10.1371\/journal.pone.0166484","volume":"11","author":"N Uceyler","year":"2016","unstructured":"N. Uceyler, N. Schroter, W. Kafke et al. Skin globotriaosylceramide 3 load is increased in men with advanced Fabry disease. PLoS One 11, e0166484 (2016)","journal-title":"PLoS One"},{"key":"2918_CR34","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1007\/s00401-005-0026-8","volume":"111","author":"C Navarro","year":"2006","unstructured":"C. Navarro, S. Teijeira, C. Dominguez et al. Fabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients. Acta Neuropathol. 111, 178\u2013185 (2006)","journal-title":"Acta Neuropathol."},{"key":"2918_CR35","doi-asserted-by":"publisher","first-page":"544","DOI":"10.1111\/j.1365-2133.2005.06732.x","volume":"153","author":"T Kanekura","year":"2005","unstructured":"T. Kanekura, T. Fukushige, A. Kanda et al. Immunoelectron-microscopic detection of globotriaosylceramide accumulated in the skin of patients with Fabry disease. Br. J. Dermatol. 153, 544\u2013548 (2005)","journal-title":"Br. J. Dermatol."},{"key":"2918_CR36","unstructured":"Muller M.J. Neuropsychiatric and psychosocial aspects of Fabry disease. In: Mehta A., Beck M., Sunder-Plassmann G., ed.^, eds. Fabry Disease: perspectives from 5 Years of FOS. Oxford, 2006."},{"key":"2918_CR37","doi-asserted-by":"publisher","first-page":"1093","DOI":"10.1016\/j.jacc.2010.11.018","volume":"57","author":"MR Patel","year":"2011","unstructured":"M.R. Patel, F. Cecchi, M. Cizmarik, et al., Cardiovascular events in patients with Fabry disease natural history data from the Fabry registry. J. Am. Coll. Cardiol. 57, 1093\u20131099 (2011)","journal-title":"J. Am. Coll. Cardiol."},{"key":"2918_CR38","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1161\/STROKEAHA.114.006283","volume":"46","author":"E Kolodny","year":"2015","unstructured":"E. Kolodny, A. Fellgiebel, M.J. Hilz et al. Cerebrovascular involvement in Fabry disease: current status of knowledge. Stroke 46, 302\u2013313 (2015)","journal-title":"Stroke"},{"key":"2918_CR39","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/j.ymgmr.2017.06.010","volume":"13","author":"KM Stepien","year":"2017","unstructured":"K.M. Stepien, C.J. Hendriksz, Lipid profile in adult patients with Fabry disease\u2014ten-year follow up. Mol. Genet. Metab. Rep. 13, 3\u20136 (2017)","journal-title":"Mol. Genet. Metab. Rep."},{"key":"2918_CR40","doi-asserted-by":"publisher","first-page":"791","DOI":"10.1023\/B:BOLI.0000045841.27968.06","volume":"27","author":"DJ Cartwright","year":"2004","unstructured":"D.J. Cartwright, A.L. Cole, A.J. Cousins, P.J. Lee, Raised HDL cholesterol in Fabry disease: response to enzyme replacement therapy. J. Inherit. Metab. Dis. 27, 791\u2013793 (2004)","journal-title":"J. Inherit. Metab. Dis."},{"key":"2918_CR41","doi-asserted-by":"publisher","first-page":"750","DOI":"10.1136\/jmg.38.11.750","volume":"38","author":"KD MacDermot","year":"2001","unstructured":"K.D. MacDermot, A. Holmes, A.H. Miners, Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J. Med. Genet. 38, 750\u2013760 (2001)","journal-title":"J. Med. Genet."},{"key":"2918_CR42","doi-asserted-by":"publisher","first-page":"1067","DOI":"10.1097\/00042737-200410000-00020","volume":"16","author":"B Hoffmann","year":"2004","unstructured":"B. Hoffmann, D. Reinhardt, B. Koletzko, Effect of enzyme-replacement therapy on gastrointestinal symptoms in Fabry disease. Eur. J. Gastroenterol. Hepatol. 16, 1067\u20131069 (2004)","journal-title":"Eur. J. Gastroenterol. Hepatol."},{"key":"2918_CR43","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-48426-4","volume":"9","author":"JJ Aguilera-Correa","year":"2019","unstructured":"J.J. Aguilera-Correa, P. Madrazo-Clemente, M.D.C. Martinez-Cuesta et al. Lyso-Gb3 modulates the gut microbiota and decreases butyrate production. Sci. Rep. 9, 12010 (2019)","journal-title":"Sci. Rep."},{"key":"2918_CR44","first-page":"99","volume":"115","author":"MK Auer","year":"2018","unstructured":"M.K. Auer, M.R. Stieg, A. Crispin, C. Sievers, G.K. Stalla, A. Kopczak, Primary empty sella syndrome and the prevalence of hormonal dysregulation. Dtsch Arztebl Int 115, 99\u2013105 (2018)","journal-title":"Dtsch Arztebl Int"},{"key":"2918_CR45","first-page":"1","volume":"36","author":"A Faggiano","year":"2011","unstructured":"A. Faggiano, R. Severino, V. Ramundo et al. Thyroid function in Fabry disease before and after enzyme replacement therapy. Minerva. Endocrinol. 36, 1\u20135 (2011)","journal-title":"Minerva. Endocrinol."},{"key":"2918_CR46","doi-asserted-by":"publisher","first-page":"35","DOI":"10.2147\/TACG.S146022","volume":"12","author":"JP Oliveira","year":"2019","unstructured":"J.P. Oliveira, S. Ferreira, Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype-phenotype correlations. Appl. Clin. Genet. 12, 35\u201350 (2019)","journal-title":"Appl. Clin. Genet."},{"key":"2918_CR47","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1038\/nrneph.2017.186","volume":"14","author":"RA Gomez","year":"2018","unstructured":"R.A. Gomez, M.L.S. Sequeira-Lopez, Renin cells in homeostasis, regeneration and immune defence mechanisms. Nat. Rev. Nephrology 14, 231\u2013245 (2018)","journal-title":"Nat. Rev. Nephrology"},{"key":"2918_CR48","doi-asserted-by":"publisher","first-page":"1632","DOI":"10.1097\/HJH.0b013e328354f65b","volume":"30","author":"S Terata","year":"2012","unstructured":"S. Terata, M. Kikuya, M. Satoh et al. Plasma renin activity and the aldosterone-to-renin ratio are associated with the development of chronic kidney disease: the Ohasama Study. J. Hypertens. 30, 1632\u20131638 (2012)","journal-title":"J. Hypertens."},{"key":"2918_CR49","doi-asserted-by":"publisher","first-page":"H958","DOI":"10.1152\/ajpheart.00723.2018","volume":"316","author":"RAS Santos","year":"2019","unstructured":"R.A.S. Santos, G.Y. Oudit, T. Verano-Braga, G. Canta, U.M. Steckelings, M. Bader, The renin-angiotensin system: going beyond the classical paradigms. Am. J. Physiol. Heart Circ. Physiol. 316, H958\u2013H970 (2019)","journal-title":"Am. J. Physiol. Heart Circ. Physiol."},{"key":"2918_CR50","doi-asserted-by":"publisher","first-page":"1069","DOI":"10.1177\/1557988317703207","volume":"11","author":"KS Fugl-Meyer","year":"2017","unstructured":"K.S. Fugl-Meyer, M. Nilsson, B. Hylander, M. Lehtihet, Sexual function and testosterone level in men with conservatively treated chronic kidney disease. Am. J. Mens. Health 11, 1069\u20131076 (2017)","journal-title":"Am. J. Mens. Health"},{"key":"2918_CR51","unstructured":"https:\/\/new.usz.ch\/fachbereich\/klinische-chemie\/angebot\/."}],"container-title":["Endocrine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12020-021-02918-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12020-021-02918-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12020-021-02918-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,9]],"date-time":"2023-02-09T03:11:56Z","timestamp":1675912316000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12020-021-02918-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,9]]},"references-count":51,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["2918"],"URL":"https:\/\/doi.org\/10.1007\/s12020-021-02918-4","relation":{},"ISSN":["1355-008X","1559-0100"],"issn-type":[{"value":"1355-008X","type":"print"},{"value":"1559-0100","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,9]]},"assertion":[{"value":"26 July 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 October 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 November 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"AN received lecturing honoraria and research support from Sanofi Genzyme, Takeda and Amicus.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The central ethical Committee of the University of Zurich approved this study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"All patients were included in the study upon visit and written informed consent was obtained, according to the Institutional Instructions and in accordance with the Declaration of Helsinki of 1975 as revised in 2000.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}}]}}