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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

Related topics

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.
2019
2019
MEGDEL syndrome
Another feature of MEGDEL syndrome is brain dysfunction (encephalopathy). In infancy, encephalopathy leads to difficulty feeding… 
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… 
2017
2017
She is one in a million – A MEGDEL syndrome case report
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… 
2014
2014
Table 1. [Urinary Concentration of 3-MGA in MEGDEL Syndrome].
2014
2014
SFP P-051 – Syndrome MEGDEL avec polyurie et insuffisance rénale néonatales
2013
2013
A lipidomics approach to identify disorders in phospholipid metabolism; MEGDEL syndrome unraveled
Frederic M. Vaz (1), Saskia B. Wortmann (2,3), Antoine H.C. van Kampen (4), Eva Morava (2,3), Arjan P.M. de Brouwer (6), Ron A… 
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… 
2008
2008
Hepatopathy: an additional feature of MEGDEL association
MEGDEL association is a recently reported disease (Morava et al 2006), considered a defect in oxidative phosphorylation, that… 
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