{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T12:21:47Z","timestamp":1765369307748,"version":"3.37.3"},"reference-count":40,"publisher":"Wiley","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004329","name":"Genzyme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004329","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Scientific World Journal"],"published-print":{"date-parts":[[2018]]},"abstract":"<jats:p>Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the alpha galactosidase A enzyme. Organic involvement in men is well known, but in women it is controversial, partly due to the random X-chromosomes inactivation (Lyon hypothesis). The aim of this study was to describe the organic involvement in women at the time of FD diagnosis. A descriptive, cross-sectional and multicenter study was carried out. Thirty-five women with FD from three reference centers in Argentina were evaluated. The mean age of the whole group (<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><mml:mi>n<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn fontstyle=\"italic\">35<\/mml:mn><\/mml:math>) was <mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M2\"><mml:mn fontstyle=\"italic\">26.6<\/mml:mn><mml:mo>\u00b1<\/mml:mo><mml:mn fontstyle=\"italic\">16.9<\/mml:mn><\/mml:math> years; 22 were adult (over 18) and 13 were paediatric patients. Enzymatic activity was performed in 29\/35 patients, which was normal in 24\/29 (82.8%). Seven different mutations of the GLA gene were found. The results showed urinary protein loss (45.7%) and decreased glomerular filtration rate (31.4%), mainly in adults. And also, cornea verticillata (56.5%), peripheral neuropathy (51.4%), cardiovascular manifestations (31.4%), hearing loss (20%), angiokeratomas (20%), central nervous system (17.1%), and gastrointestinal involvement (14.3%). Organic compromise in females with FD may be as severe as in men. This analysis has demonstrated a significant proportion of women with signs, symptoms, and major organic involvement at FD diagnosis.<\/jats:p>","DOI":"10.1155\/2018\/6515613","type":"journal-article","created":{"date-parts":[[2018,5,21]],"date-time":"2018-05-21T19:32:07Z","timestamp":1526931127000},"page":"1-6","source":"Crossref","is-referenced-by-count":8,"title":["Major Organic Involvement in Women with Fabry Disease in Argentina"],"prefix":"10.1155","volume":"2018","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9383-6488","authenticated-orcid":true,"given":"Fernando","family":"Perretta","sequence":"first","affiliation":[{"name":"Servicio de Terapia Intensiva del Hospital Dr. Enrique Erill de Escobar, Buenos Aires, Argentina"},{"name":"GINEF (Grupo de Investigaci\u00f3n Nefrol\u00f3gica en la Enfermedad de Fabry), Buenos Aires, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norberto","family":"Antongiovanni","sequence":"additional","affiliation":[{"name":"GINEF (Grupo de Investigaci\u00f3n Nefrol\u00f3gica en la Enfermedad de Fabry), Buenos Aires, Argentina"},{"name":"Centro de Infusi\u00f3n y Estudio de Enfermedades Lisosomales del Instituto de Nefrolog\u00eda Cl\u00ednica Pergamino, Buenos Aires, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebasti\u00e1n","family":"Jaurretche","sequence":"additional","affiliation":[{"name":"GINEF (Grupo de Investigaci\u00f3n Nefrol\u00f3gica en la Enfermedad de Fabry), Buenos Aires, Argentina"},{"name":"Centro de Neurociencias Los Manantiales, Grupo Gamma Rosario, Santa Fe, Argentina"},{"name":"C\u00e1tedra de Biof\u00edsica y Fisiolog\u00eda, Instituto Universitario Italiano de Rosario, Santa Fe, 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