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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
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National Institutes of Health
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Related topics
Related topics
16 relations
3-Methylglutaconic Aciduria
Abnormality of extrapyramidal motor function
Acidosis, Lactic
Autosomal recessive inheritance
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2014
2014
Table 1. [Urinary Concentration of 3-MGA in MEGDEL Syndrome].
S. Wortmann
,
A. Brouwer
,
R. Wevers
,
E. Morava
2014
Corpus ID: 78464507
2008
2008
Hepatopathy: an additional feature of MEGDEL association
I. Barić
,
Danijela Petković
,
+10 authors
K. Fumic
2008
Corpus ID: 91025177
MEGDEL association is a recently reported disease (Morava et al 2006), considered a defect in oxidative phosphorylation, that…
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