Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8684382 | European Journal of Paediatric Neurology | 2018 | 35 Pages |
Abstract
In our small patient cohort, there seems to be no phenotype-genotype correlation. Creatine and ornithine and/or arginine- or protein-restricted diet were the most useful treatment to improve phenotype.
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Authors
Yannay Khaikin, Sarah Sidky, Jose Abdenur, Arnaud Anastasi, Diana Ballhausen, Sabrina Buoni, Alicia Chan, David Cheillan, Nathalie Dorison, Alice Goldenberg, Jennifer Goldstein, Floris C. Hofstede, Marie-Line Jacquemont, Dwight D. Koeberl,