Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of diagnosis using quantitative and qualitative data.

Authors:
Doerr A; Farooq M; Faulkner C; Gould R; Perry K and 2 more

Journal:
Mol Genet Metab Rep

Publication Year: 2024

DOI:
10.1016/j.ymgmr.2024.101052

PMCID:
PMC10926222

PMID:
38469089

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Journal Information

Journal Title: Mol Genet Metab Rep

Detailed journal information not available.

Publication Details

Subject Category: Genetics & Heredity

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
3/6
50.0% Transparent
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Evidence found in paper:

"Declaration of competing interest AD and RG are employees of Fulcrum Research Group, a company which was paid by Sanofi for work related to this study. MF, CF, and KP are employees of Trinity Life Sciences, a company which was paid by Sanofi for work related to this study. RPJ and PR are employees and stockholders of Sanofi."

Evidence found in paper:

"Funding Sanofi sponsored the research and development of this manuscript."

Protocol Registration
Open Access
Paper is freely available to read
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Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025