Perinatal-Onset Neuronopathic Gaucher Disease Is Refractory to High-Dose Ambroxol: A Case Report and Literature Review
Ambroxol therapy may be insufficient to improve the prognosis of patients with PnGD, underscoring the limitations of early intervention in newborn-screened patients with GD. Therefore, pre-emptive therapeutic strategies are required to rescue and cure neonates with PnGD.
Authors
- Naoki Egami (ORCID: https://orcid.org/0000-0003-2602-7984)
- Vlad Tocan (ORCID: https://orcid.org/0000-0002-8710-4886)
- Shouichi Ohga
- Yasunari Sakai (ORCID: https://orcid.org/0000-0002-5747-8692)
- Kenta Kajiwara
- Ryota Fujikawa
- Hirosuke Inoue (ORCID: https://orcid.org/0000-0002-5804-8053)
- Kazuaki Yasuoka (ORCID: https://orcid.org/0009-0004-6369-8984)
- Masayuki Ochiai (ORCID: https://orcid.org/0000-0001-7169-3690)
- Yuichi Mushimoto (ORCID: https://orcid.org/0000-0003-2442-541X)
- Yuhei Igata
- Yuta Miyauchi
- Ryoji Mikubo
Institutions
- Kyushu University (JP)
- National Kyushu Medical Center (JP)
- Japanese Red Cross Fukuoka Hospital (JP)
- Kokura Memorial Hospital (JP)
Publication Details
- Journal
- Neonatology
- Published
- 2025-11-14
- DOI
- https://doi.org/10.1159/000549536
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00