Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel <i>DARS2</i> mutation.

Journal Information

Full Title: Mol Genet Metab Rep

Abbreviation: Mol Genet Metab Rep

Country: Unknown

Publisher: Unknown

Language: N/A

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
Transparency Indicators
Click on green indicators to view evidence text
Core Indicators
Data Sharing
Code Sharing
Evidence found in paper:

"Declaration of Competing Interest None."

Evidence found in paper:

"We thank all members of the family for their participation in this study. This work was supported by grants from the Ralph and Sue Stern Family (16984011), the Cure LBSL Foundation (16984017). Latini A is a 10.13039/501100003593CNPq fellow (PQ #312854/2019-6)."

Protocol Registration
Open Access
Paper is freely available to read
Additional Indicators
Replication
Novelty Statement
Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025