{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T20:47:28Z","timestamp":1790801248711,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,9,20]],"date-time":"2013-09-20T00:00:00Z","timestamp":1379635200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:p>We analysed the clinical history of 16 hemizygous males affected by Anderson\u2010Fabry Disease, from four families, to verify their intrafamilial phenotypic variability. Seven male patients, ranging from 26 to 61\u2009years of age, died, whereas nine (age range 23\u201355) are alive. Eleven patients have undergone enzyme replacement therapy (<jats:styled-content style=\"fixed-case\">ERT<\/jats:styled-content>) for a period of 5\u201310\u2009years. We have found a wide range of intrafamilial phenotypic variability in these families, both in terms of target\u2010organs and severity of the disease. Overall, our findings confirm previous data from the literature showing a high degree of intrafamilial phenotypic variability in patients carrying the same mutation. Furthermore, our results underscore the difficulty in giving accurate prognostic information to patients during genetic counselling, both in terms of rate of disease progression and involvement of different organs, when such prognosis is solely based on the patient's family history.<\/jats:p>","DOI":"10.1111\/cge.12261","type":"journal-article","created":{"date-parts":[[2013,8,23]],"date-time":"2013-08-23T18:04:46Z","timestamp":1377281086000},"page":"258-263","source":"Crossref","is-referenced-by-count":52,"title":["Intrafamilial phenotypic variability in four families with Anderson\u2010Fabry disease"],"prefix":"10.1111","volume":"86","author":[{"given":"M.","family":"Rigoldi","sequence":"first","affiliation":[{"name":"Rare Metabolic Diseases Unit San Gerardo Hospital  Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Concolino","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Catanzaro  Catanzaro Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Morrone","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Pharmacology and Developmental Medicine, University of Florence  Florence Italy"},{"name":"Neuroscience Department Molecular and Cell Biology Laboratory, Paediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital  Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Pieruzzi","sequence":"additional","affiliation":[{"name":"Department of Health Sciences University of Milano Bicocca  Monza Italy"},{"name":"Clinical Nephrology San Gerardo Hospital  Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Ravaglia","sequence":"additional","affiliation":[{"name":"Department of Cardiology Ospedale Buzzi, AO Istituti Clinici di Perfezionamento  Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Furlan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Rare Metabolic Diseases Unit Fondazione MBBM, San Gerardo Hospital  Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Santus","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Rare Metabolic Diseases Unit Fondazione MBBM, San Gerardo Hospital  Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Strisciuglio","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Federico II  Napoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Torti","sequence":"additional","affiliation":[{"name":"Clinical Nephrology San Gerardo Hospital  Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Parini","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Rare Metabolic Diseases Unit Fondazione MBBM, San Gerardo Hospital  Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,9,20]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-30"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200107053450102"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.285.21.2743"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2006.tb02186.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.600107.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.15.6.428"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201184"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.8.e103"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.06.013"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00219.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0712309105"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2010.09.007"},{"key":"e_1_2_6_14_1","unstructured":"The Human Gene Mutation Database at the Institute of MedicalGenetics in Cardiff. 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