Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review.
Higashi K, Sonoda Y, Kaku N, Fujii F, Yamashita F, Lee S, Tocan V, Ebihara G, Matsuoka W, Tetsuhara K, Sonoda M, Chong PF, Mushimoto Y, Kojima-Ishii K, Ishimura M, Koga Y, Fukuta A, Tsuchihashi NA, Kikuchi Y, Karashima T, Sawada T, Hotta T, Yoshimitsu M, Terazono H, Tajiri T, Nakagawa T, Sakai Y, Nakamura K, Ohga S.
Higashi K, et al. Among authors: nakamura k.
Mol Genet Genomic Med. 2024 Apr;12(4):e2427. doi: 10.1002/mgg3.2427.
Mol Genet Genomic Med. 2024.
PMID: 38553911
Free PMC article.
Review.
However, little is known about the clinical indication and the long-term 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 months of age and had the pathogenic variants of p …
However, little is known about the clinical indication and the long-term outcome of patients after ambroxol therapy. We herein report …