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3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME

Known as: 3-@METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, MGCA6, MEGDEL 
National Institutes of Health

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Related topics

16 relations
3-Methylglutaconic AciduriaAbnormality of extrapyramidal motor functionAcidosis, LacticAutosomal recessive inheritance

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome
Background MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe… 
2018
2018
Dystonia is a Common Phenotypic Feature of MEGDEL Syndrome
In Response To: Giron C, Roze E, Degos, B, Méneret A, Jardel C, Lannuzel A, et al. Adult-onset generalized dystonia as the main… 
2016
2016
Transient neonatal renal failure and massive polyuria in MEGDEL syndrome
2016
2016
Diagnosis and Management of Drooling in Children With Progressive Dystonia
Drooling is a common problem in children with progressive dystonia. The authors noted a 58% incidence of drooling in 22/38… 
2015
2015
MEGDEL Syndrome in a Child From Palestine
We report the first Palestinian child manifesting with 3-methylglutaconic aciduria psychomotor delay, muscle hypotonia, sensori… 
2015
2015
Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation.
Association of 3-methylglutaconic aciduria with impaired oxidative phosphorylation, deafness, encephalopathy, leigh-like lesions… 
2014
2014
The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations.
The inborn errors of metabolism associated with 3-methylglutaconic aciduria are a diverse group of disorders characterized by the… 
2013
2013
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.
2011
2011
Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria).
UNLABELLED Association of 3-methylglutaconic aciduria (3-MGCA) with sensorineural deafness and Leigh-like encephalopathy (MEGDEL… 
Highly Cited
2006
Highly Cited
2006
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation…
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