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
Hauptverfasser: Brandt, N J, Gregersen, N, Christensen, E, Grøn, I H, Rasmussen, K
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Sprache:eng
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