No abstract available
MeSH terms
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Acyltransferases
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Cardiomyopathies / genetics
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Consanguinity
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Glutarates / urine*
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Humans
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Hydro-Lyases / deficiency
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Hydro-Lyases / genetics
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Male
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Metabolism, Inborn Errors / classification*
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Metabolism, Inborn Errors / enzymology
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Metabolism, Inborn Errors / genetics
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Metabolism, Inborn Errors / urine
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Myelodysplastic Syndromes / genetics
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Phenotype
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Proteins / genetics
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Transcription Factors / deficiency
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Transcription Factors / genetics
Substances
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Glutarates
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OPA3 protein, human
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Proteins
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Transcription Factors
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3-methylglutaconic acid
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Acyltransferases
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TAFAZZIN protein, human
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Hydro-Lyases
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methylglutaconyl-CoA hydratase