Literature DB >> 31918384

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

Shao-Yin Chu1, Chun-Ching Chien2, Wuh-Liang Hwu3, Pen-Jung Wang4, Yin-Hsiu Chien5.   

Abstract

Entities:  

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

Year:  2020        PMID： 31918384     DOI： 10.1016/j.bcmd.2019.102402

Source DB:  PubMed          Journal:  Blood Cells Mol Dis        ISSN： 1079-9796            Impact factor:   3.039


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  3 in total

Review 1.  Gaucher disease - more than just a rare lipid storage disease.

Authors:  Jaehyeok Roh; Subbaya Subramanian; Neal J Weinreb; Reena V Kartha
Journal:  J Mol Med (Berl)       Date:  2022-01-23       Impact factor: 4.599

2.  Current and emerging pharmacotherapy for Gaucher disease in pediatric populations.

Authors:  Richard Sam; Emory Ryan; Emily Daykin; Ellen Sidransky
Journal:  Expert Opin Pharmacother       Date:  2021-03-25       Impact factor: 4.103

3.  Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.

Authors:  Yin-Hsiu Chien; Ni-Chung Lee; Pin-Wen Chen; Hui-Ying Yeh; Michael H Gelb; Pao-Chin Chiu; Shao-Yin Chu; Chen-Hao Lee; An-Ru Lee; Wuh-Liang Hwu
Journal:  Orphanet J Rare Dis       Date:  2020-02-03       Impact factor: 4.123
  3 in total

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