| Autor: |
Ashlee R. Stiles, Erin Huggins, Luca Fierro, Seung-Hye Jung, Manisha Balwani, Priya S. Kishnani |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100729- (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2214-4269 |
| DOI: |
10.1016/j.ymgmr.2021.100729 |
| Popis: |
Gaucher disease (GD), a lysosomal storage disorder caused by β-glucocerebrosidase deficiency, results in the accumulation of glucosylceramide and glucosylsphingosine. Glucosylsphingosine has emerged as a sensitive and specific biomarker for GD and treatment response. However, limited information exists on its role in guiding treatment decisions in pre-symptomatic patients identified at birth or due to a positive family history. We present two pediatric patients with GD1 and highlight the utility of glucosylsphingosine monitoring in guiding treatment initiation. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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