{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T18:54:18Z","timestamp":1791226458636,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","license":[{"start":{"date-parts":[[2024,2,19]],"date-time":"2024-02-19T00:00:00Z","timestamp":1708300800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Global Health, Epidemiology and Genomics"],"published-print":{"date-parts":[[2024,2,19]]},"abstract":"<jats:p>Fabry disease (FD) is a multisystem lysosomal storage disorder induced by genetic variants in the alpha-galactosidase A (\u03b1GalA) gene. Some FD patients have GLA variants with a reduction in overall \u03b1GalA enzymatic activity due to mutated proteins with reduced stability, caused by protein misfolding and premature degradation, but the \u03b1GalA catalytic activity remains conserved (\u201camenable\u201d genetic variants). To correct this misfolding and to prevent premature degradation, migalastat, a small iminosugar molecule was developed. We report the clinical characteristics of FD \u201camenable\u201d cohort patients from Argentina, prior to starting treatment with migalastat. Seventeen Fabry adult patients were recruited from 13 Argentinian Centers; 8 males (47.1%) and 9 females (52.9%) were included. All genotypes included were missense-type \u201camenables\u201d mutations. Some classic FD typical early manifestations were more frequent in patients with \u201cclassic\u201d versus \u201clate-onset\u201d FD phenotype (pain, <jats:inline-formula><a:math xmlns:a=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><a:mi>p<\/a:mi><a:mo>=<\/a:mo><a:mn>0.002<\/a:mn><\/a:math><\/jats:inline-formula>; cornea verticillata, <jats:inline-formula><c:math xmlns:c=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M2\"><c:mi>p<\/c:mi><c:mo>=<\/c:mo><c:mn>0.019<\/c:mn><\/c:math><\/jats:inline-formula>). There was a statistically significant difference in estimated glomerular filtration rate in the \u201cclassic\u201d versus \u201clate-onset\u201d phenotype (<jats:inline-formula><e:math xmlns:e=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M3\"><e:mi>p<\/e:mi><e:mo>=<\/e:mo><e:mn>0.026<\/e:mn><\/e:math><\/jats:inline-formula>) but no difference between genders (<jats:inline-formula><g:math xmlns:g=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M4\"><g:mi>p<\/g:mi><g:mo>=<\/g:mo><g:mn>0.695<\/g:mn><\/g:math><\/jats:inline-formula>). Left ventricular mass was similar between genders (<jats:inline-formula><i:math xmlns:i=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M5\"><i:mi>p<\/i:mi><i:mo>=<\/i:mo><i:mn>0.145<\/i:mn><\/i:math><\/jats:inline-formula>) and phenotypes (<jats:inline-formula><k:math xmlns:k=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M6\"><k:mi>p<\/k:mi><k:mo>=<\/k:mo><k:mn>0.303<\/k:mn><\/k:math><\/jats:inline-formula>). Cardiovascular risk factors were present among \u201clate-onset\u201d females (obesity 50% and smoke 25%). In patients who started \u201cde novo\u201d migalastat, the main indications were (i) heart disease, (ii) kidney damage, and (iii) pain, while in \u201cswitched from prior enzyme replacement therapy\u201d patients, the most frequent indication was \u201cpatient decision;\u201d this coincides with publications by other authors.<\/jats:p>","DOI":"10.1155\/2024\/9293896","type":"journal-article","created":{"date-parts":[[2024,2,19]],"date-time":"2024-02-19T23:39:44Z","timestamp":1708385984000},"page":"1-8","source":"Crossref","is-referenced-by-count":1,"title":["Baseline Characteristics of Fabry Disease \u201cAmenable\u201d Migalastat Patients in Argentinian Cohort"],"prefix":"10.1155","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1462-2703","authenticated-orcid":true,"given":"Sebasti\u00e1n","family":"Jaurretche","sequence":"first","affiliation":[{"name":"Transplant Department, Sanatorio Parque de Rosario, Rosario, Argentina"},{"name":"Biophysics and Human Physiology, Instituto Universitario Italiano de Rosario, Rosario, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Santiago","family":"Alonso","sequence":"additional","affiliation":[{"name":"Angel C. Padilla Hospital, San Miguel de Tucum\u00e1n, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica","family":"Calvo","sequence":"additional","affiliation":[{"name":"STR Cuidadela, Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebasti\u00e1n","family":"Fernandez","sequence":"additional","affiliation":[{"name":"Instituto de Nefrolog\u00eda y Hemodi\u00e1lisis, Mendoza, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heber","family":"Figueredo","sequence":"additional","affiliation":[{"name":"Rheumatology Department, Juan Domingo Per\u00f3n Hospital, Formosa, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Galli","sequence":"additional","affiliation":[{"name":"San Bernardo Hospital, Salta, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivanna","family":"Marin","sequence":"additional","affiliation":[{"name":"Central Hospital, Mendoza, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9s","family":"Martinez","sequence":"additional","affiliation":[{"name":"Central Hospital, San Luis, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Mattausch","sequence":"additional","affiliation":[{"name":"Fresenius Medical Care, C\u00f3rdoba, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Perretta","sequence":"additional","affiliation":[{"name":"Intensive Care Unit, Dr. Enrique Erill Hospital, Bel\u00e9n de Escobar, Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Politei","sequence":"additional","affiliation":[{"name":"Neurology Department, SPINE Foundation, Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Ignacio","family":"Rolon","sequence":"additional","affiliation":[{"name":"German Hospital, Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esteban","family":"Calabrese","sequence":"additional","affiliation":[{"name":"INECO, Neurociencias Oro\u00f1o, Rosario, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-30"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.02.014"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1155\/2018\/6515613"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1993.2659"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23031887"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1038\/4801"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1096\/fj.04-2375com"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1038\/nbt1018-913"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1016\/j.kisu.2017.04.001"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-150-9-200905050-00006"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1177\/2326409816661351"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12673"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.06.006"},{"issue":"3","key":"14","first-page":"1","article-title":"Prevalence of renal damage previous to the diagnosis of Fabry disease in Argentina","volume":"42","author":"S. Jaurretche","year":"2022","journal-title":"Rev Nefrol Dial Traspl"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2017.05.007"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.3390\/genes13101751"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-0677-x"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.3390\/healthcare11040449"}],"container-title":["Global Health, Epidemiology and Genomics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/gheg\/2024\/9293896.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/gheg\/2024\/9293896.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/gheg\/2024\/9293896.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,19]],"date-time":"2024-02-19T23:39:47Z","timestamp":1708385987000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/gheg\/2024\/9293896\/"}},"subtitle":[],"editor":[{"given":"Godfred","family":"Agongo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2024,2,19]]},"references-count":18,"alternative-id":["9293896","9293896"],"URL":"https:\/\/doi.org\/10.1155\/2024\/9293896","relation":{},"ISSN":["2054-4200"],"issn-type":[{"value":"2054-4200","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,19]]}}}