Early initiation of high-dose oral ambroxol in combination with enzyme replacement therapy in a neuropathic Gaucher infant

Affiliations

¹ Department of Pediatrics, Buddhist Tzu Chi Medical Center, Hualien, Taiwan; Genetic counseling Center, Buddhist Tzu Chi Medical Center, Hualien, Taiwan. Electronic address: chushaoyin@gmail.com.
² Department of Pediatrics, Buddhist Tzu Chi Medical Center, Hualien, Taiwan; Genetic counseling Center, Buddhist Tzu Chi Medical Center, Hualien, Taiwan. Electronic address: juno67@tzuchi.com.tw.
³ Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address: hwuwlntu@ntu.edu.tw.
⁴ Department of Pediatrics, Buddhist Tzu Chi Medical Center, Hualien, Taiwan. Electronic address: pedwpj@mail.tcu.edu.tw.
⁵ Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address: chienyh@ntu.edu.tw.

Case Reports

Shao-Yin Chu et al. Blood Cells Mol Dis. 2020 Mar.

. 2020 Mar:81:102402.

doi: 10.1016/j.bcmd.2019.102402. Epub 2020 Jan 2.

¹ Department of Pediatrics, Buddhist Tzu Chi Medical Center, Hualien, Taiwan; Genetic counseling Center, Buddhist Tzu Chi Medical Center, Hualien, Taiwan. Electronic address: chushaoyin@gmail.com.
² Department of Pediatrics, Buddhist Tzu Chi Medical Center, Hualien, Taiwan; Genetic counseling Center, Buddhist Tzu Chi Medical Center, Hualien, Taiwan. Electronic address: juno67@tzuchi.com.tw.
³ Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address: hwuwlntu@ntu.edu.tw.
⁴ Department of Pediatrics, Buddhist Tzu Chi Medical Center, Hualien, Taiwan. Electronic address: pedwpj@mail.tcu.edu.tw.
⁵ Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address: chienyh@ntu.edu.tw.

No abstract available

Keywords: Ambroxol chaperone therapy; Glucosylsphingosine (Lyso-GL1); Neuropathic Gaucher infant; Newborn screening.

Publication types