Last Updated: 09/26/2026
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Found 127 publications
PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.
Journal: medRxiv : the preprint server for health sciences
Published: April 10, 2026
PTPN1 -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.
Journal: medRxiv : the preprint server for health sciences
Published: April 10, 2026
Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis.
Journal: Molecular genetics and metabolism
Published: March 25, 2026
Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies.
Journal: Journal of inherited metabolic disease
Published: March 09, 2025
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy.
Journal: Journal of inherited metabolic disease
Published: January 20, 2025
Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extension.
Journal: Nature communications
Published: July 24, 2024
Gaucher disease type 3 from infancy through adulthood: a conceptual model of signs, symptoms, and impacts associated with ataxia and cognitive impairment.
Journal: Orphanet journal of rare diseases
Published: June 12, 2024
Qualitative Study of the Patient Experience with Venglustat for Gaucher Disease Type 3 in a Phase 2 Open-Label, Multicenter, Multinational Study (LEAP).
Journal: Advances in therapy
Published: January 15, 2024
GDF15 is a dynamic biomarker of the integrated stress response in the central nervous system.
Journal: CNS neuroscience & therapeutics
Published: June 22, 2023
Last Updated: 09/26/2026