Neonatology
Perinatal-Onset Neuronopathic Gaucher Disease Is Refractory to High-Dose Ambroxol: A Case Report and Literature Review.
Ryota Fujikawa, Naoki Egami, Ryoji Mikubo, Kenta Kajiwara, Vlad Tocan, Yuhei Igata, Yuta Miyauchi, Kazuaki Yasuoka, Yasunari Sakai, Yuichi Mushimoto, Masayuki Ochiai, Hirosuke Inoue, Shouichi Ohga
Published: 202510.1159/000549536
Abstract
INTRODUCTION: High-dose ambroxol is an effective pharmacological chaperone therapy for the systemic and neurological symptoms of Gaucher disease (GD). However, no clinical evidence of perinatal-onset GD has been documented. CASE PRESENTATION: The pat…
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