The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease.
| dc.contributor.author | Stiles, Ashlee R | |
| dc.contributor.author | Huggins, Erin | |
| dc.contributor.author | Fierro, Luca | |
| dc.contributor.author | Jung, Seung-Hye | |
| dc.contributor.author | Balwani, Manisha | |
| dc.contributor.author | Kishnani, Priya S | |
| dc.date.accessioned | 2023-01-03T15:57:12Z | |
| dc.date.available | 2023-01-03T15:57:12Z | |
| dc.date.issued | 2021-06 | |
| dc.date.updated | 2023-01-03T15:57:11Z | |
| dc.description.abstract | 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. | |
| dc.identifier | S2214-4269(21)00023-9 | |
| dc.identifier.issn | 2214-4269 | |
| dc.identifier.issn | 2214-4269 | |
| dc.identifier.uri | ||
| dc.language | eng | |
| dc.publisher | Elsevier BV | |
| dc.relation.ispartof | Molecular genetics and metabolism reports | |
| dc.relation.isversionof | 10.1016/j.ymgmr.2021.100729 | |
| dc.subject | Glucosylsphingosine | |
| dc.subject | Lyso-Gb1 | |
| dc.subject | Monitoring | |
| dc.subject | Pediatric | |
| dc.subject | Type 1 Gaucher disease | |
| dc.subject | p.N409S | |
| dc.title | The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease. | |
| dc.type | Journal article | |
| duke.contributor.orcid | Huggins, Erin|0000-0002-7594-4511 | |
| duke.contributor.orcid | Kishnani, Priya S|0000-0001-8251-909X | |
| pubs.begin-page | 100729 | |
| pubs.organisational-group | Duke | |
| pubs.organisational-group | School of Medicine | |
| pubs.organisational-group | Basic Science Departments | |
| pubs.organisational-group | Clinical Science Departments | |
| pubs.organisational-group | Institutes and Centers | |
| pubs.organisational-group | Molecular Genetics and Microbiology | |
| pubs.organisational-group | Pediatrics | |
| pubs.organisational-group | Pediatrics, Medical Genetics | |
| pubs.organisational-group | Duke Clinical Research Institute | |
| pubs.organisational-group | Institutes and Provost's Academic Units | |
| pubs.organisational-group | Initiatives | |
| pubs.organisational-group | Duke Innovation & Entrepreneurship | |
| pubs.publication-status | Published | |
| pubs.volume | 27 |
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