{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T07:33:45Z","timestamp":1781163225921,"version":"3.54.1"},"reference-count":17,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,8,8]],"date-time":"2019-08-08T00:00:00Z","timestamp":1565222400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Fabry disease (OMIM 301500) is an X\u2010linked disorder caused by alpha\u2010galactosidase A (\u03b1\u2010Gal A) deficiency. The administration of a pharmacologic chaperone (migalastat) in Fabry patients with amenable mutations has been reported to improve or stabilize organ damages and reduce <jats:italic>lyso<\/jats:italic>\u2010Gb3 plasma level. An increase of \u03b1\u2010Gal A activity has been observed in vitro in cells expressing amenable <jats:italic>GLA<\/jats:italic> mutations when incubated with migalastat. The impact of the drug on \u03b1\u2010Gal A in vivo activity has been poorly studied.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We conducted a retrospective analysis of two unrelated male Fabry patients with p.Asn215Ser (p.N215S) variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We report the important increase of \u03b1\u2010Gal A activity in blood leukocytes reaching normal ranges of activity after about 1\u00a0year of treatment with migalastat. Cardiac parameters improved or stabilized with the treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We confirm in vivo the effects of migalastat that have been observed in N215S carriers in vitro. The increase of \u03b1\u2010Gal A activity may be the strongest marker for biochemical efficacy. The normalization of enzyme activity could become the new therapeutic target to achieve.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.894","type":"journal-article","created":{"date-parts":[[2019,8,8]],"date-time":"2019-08-08T12:45:00Z","timestamp":1565268300000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Strong increase of leukocyte apha\u2010galactosidase A activity in two male patients with Fabry disease following oral chaperone therapy"],"prefix":"10.1002","volume":"7","author":[{"given":"Foudil","family":"Lamari","sequence":"first","affiliation":[{"name":"Laboratoire de Biochimie M\u00e9tabolique APHP, H\u00f4pitaux Universitaires Piti\u00e9\u2010Salp\u00eatri\u00e8re Paris France"},{"name":"GRC 2011\u2010Neurom\u00e9tabolisme Universit\u00e9 Pierre et Marie\u2010Curie\u2010Sorbonne Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wladimir","family":"Mauhin","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Interne, Centre de R\u00e9f\u00e9rence des Maladies Lysosomales Groupe Hospitalier Diaconesses\u2010Croix St Simon Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fairouz","family":"Koraichi","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence pour les Maladies Cardiaques H\u00e9r\u00e9ditaires, D\u00e9partement de G\u00e9n\u00e9tique APHP, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walid","family":"Khrouf","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie M\u00e9tabolique APHP, H\u00f4pitaux Universitaires Piti\u00e9\u2010Salp\u00eatri\u00e8re Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celine","family":"Bordet","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence pour les Maladies Cardiaques H\u00e9r\u00e9ditaires, D\u00e9partement de G\u00e9n\u00e9tique APHP, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"London","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Interne, Centre de R\u00e9f\u00e9rence des Maladies Lysosomales Groupe Hospitalier Diaconesses\u2010Croix St Simon Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4847-7839","authenticated-orcid":false,"given":"Olivier","family":"Lidove","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Interne, Centre de R\u00e9f\u00e9rence des Maladies Lysosomales Groupe Hospitalier Diaconesses\u2010Croix St Simon Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Charron","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence pour les Maladies Cardiaques H\u00e9r\u00e9ditaires, D\u00e9partement de G\u00e9n\u00e9tique APHP, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re Paris France"},{"name":"INSERM, UMR_S 1166 and ICAN Institute for Cardiometabolism and Nutrition Sorbonne Universit\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,8,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.122"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1077-0"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2015.03.014"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0173358"},{"issue":"6","key":"e_1_2_7_6_1","first-page":"1186","article-title":"Nature and frequency of mutations in the alpha\u2010galactosidase A gene that cause Fabry disease","volume":"53","author":"Eng C. 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