Mild and late onset forms of type I 3-methylglutaconic aciduria presenting as isolated cerebellar ataxia without leukodystrophy: case reports and phenotype expansion

Neurological Sciences 2026

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Authors: Flavie Borel, Christel Thauvin, Manuel Schiff, Yannis Duffourd, Frédéric Tran Mau‐Them, Christophe Philippe, Fanny Mochel, Quentin Thomas
DOI: 10.1007/s10072-025-08634-5
Cited by: 0
References: 9

Fields of Study & Subjects

Metabolism and Genetic Disorders Mitochondrial Function and Pathology Genetic Neurodegenerative Diseases

Publication details

Journal / source
Neurological Sciences
Volume
47
Issue
1
Pages
78–78
Publication date
1 January 2026
Language
EN