Glutaric Acidemia Type 1: An Inherited Neurometabolic Disorder of Intoxication

Author:

Wajner Moacir

Publisher

Springer International Publishing

Reference73 articles.

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2. Baric, I., Wagner, L., Feyh, P., Liesert, M., Buckel, W., & Hoffmann, G. F. (1999). Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I. Journal of Inherited Metabolic Disease, 22(8), 867–881.

3. Bjugstad, K. B., Goodman, S. I., & Freed, C. R. (2000). Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type 1. The Journal of Pediatrics, 137(5), 681–686.

4. Boy, N., Haege, G., Heringer, J., Assmann, B., Mühlhausen, C., Ensenauer, R., Maier, E. M., Lücke, T., Hoffmann, G. F., Müller, E., Burgard, P., & Kölker, S. (2013). Low lysine diet in glutaric aciduria type I – effect on anthropometric and biochemical follow-up parameters. Journal of Inherited Metabolic Disease, 36(3), 525–533.

5. Boy, N., Mühlhausen, C., Maier, E. M., Heringer, J., Assmann, B., Burgard, P., Dixon, M., Fleissner, S., Greenberg, C. R., Harting, I., Hoffmann, G. F., Karall, D., Koeller, D. M., Krawinkel, M. B., Okun, J. G., Opladen, T., Posset, R., Sahm, K., Zschocke, J., & Kölker, S. (2017a). Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: Second revision. Journal of Inherited Metabolic Disease, 40(1), 75–101.

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