Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades

Glutaric acidemia type 1 (GA1) is a disorder of cerebral organic acid metabolism resulting from biallelic mutations of GCDH. Without treatment, GA1 causes striatal degeneration in >80% of affected children before two years of age. We analyzed clinical, biochemical, and developmental outcomes for...

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Veröffentlicht in:	Molecular genetics and metabolism 2020-11, Vol.131 (3), p.325-340
Hauptverfasser:	Strauss, Kevin A., Williams, Katie B., Carson, Vincent J., Poskitt, Laura, Bowser, Lauren E., Young, Millie, Robinson, Donna L., Hendrickson, Christine, Beiler, Keturah, Taylor, Cora M., Haas-Givler, Barbara, Hailey, Jennifer, Chopko, Stephanie, Puffenberger, Erik G., Brigatti, Karlla W., Miller, Freeman, Morton, D. Holmes
Format:	Artikel
Sprache:	eng
Schlagworte:	Arginine Carnitine Dystonia Endocrinology & Metabolism Genetics & Heredity Glutaric acidemia Life Sciences & Biomedicine Lysine Medical food Medicine, Research & Experimental Research & Experimental Medicine Science & Technology Striatal degeneration
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