Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). Experience with diet, riboflavin, and GABA analogue
The autosomal recessive inherited disorder glutaryl-CoA dehydrogenase deficiency (glutaric aciduria) runs a progressive course with severe choreoathetosis and dystonia, eventually leading to total helplessness and early death. Theree patients were observed during therapeutic trials with a protein-lo...
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Veröffentlicht in: | The Journal of pediatrics 1979-01, Vol.94 (4), p.669-673 |
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Format: | Artikel |
Sprache: | eng |
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