{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T18:03:17Z","timestamp":1790532197725,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,3,30]],"date-time":"2024-03-30T00:00:00Z","timestamp":1711756800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP22K07893"],"award-info":[{"award-number":["JP22K07893"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP23K07334"],"award-info":[{"award-number":["JP23K07334"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gaucher disease (GD) is a lysosomal storage disorder caused by a deficiency in the <jats:italic>GBA1<\/jats:italic>\u2010encoded enzyme, \u03b2\u2010glucocerebrosidase<jats:italic>.<\/jats:italic> Enzyme replacement therapy is ineffective for neuronopathic Gaucher disease (nGD). High\u2010dose ambroxol has been administered as an alternative treatment for a group of patients with nGD. However, little is known about the clinical indication and the long\u2010term outcome of patients after ambroxol therapy. We herein report a case of a female patient who presented with a progressive disease of GD type 2 from 11\u2009months of age and had the pathogenic variants of p.L483P (formerly defined as p.L444P) and p.R502H (p.R463H) in <jats:italic>GBA1<\/jats:italic>. A combined treatment of imiglucerase with ambroxol started improving the patient's motor activity in 1\u2009week, while it kept the long\u2010lasting effect of preventing the deteriorating phenotype for 30\u2009months. A literature review identified 40 patients with nGD, who had received high\u2010dose ambroxol therapy. More than 65% of these patients favorably responded to the molecular chaperone therapy, irrespective of p.L483P homozygous, heterozygous or the other genotypes. These results highlight the long\u2010lasting effect of ambroxol\u2010based chaperone therapy for patients with an expanding spectrum of mutations in <jats:italic>GBA1<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/mgg3.2427","type":"journal-article","created":{"date-parts":[[2024,3,30]],"date-time":"2024-03-30T07:54:45Z","timestamp":1711785285000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Rapid and long\u2010lasting efficacy of high\u2010dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review"],"prefix":"10.1002","volume":"12","author":[{"given":"Kanako","family":"Higashi","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical Sciences Kyushu University  Fukuoka Japan"},{"name":"Emergency and Critical Care Center Kyushu University Hospital  Fukuoka 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