ArticleClinical medicine insights. Pediatrics2025
Expanding the Epidemiological and Phenotypic Spectrum of MEGDEL Syndrome: The First Case Report From Egypt.
Article in Clinical medicine insights. Pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
MEGDEL syndrome is a rare autosomal recessive disease characterized by 3-methylglutaconic aciduria, deafness-dystonia, hepatopathy, encephalopathy, and leigh-like syndrome, which results from biallelic pathogenic variants in
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