Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics
J. Daniel Sharer(University of Alabama at Birmingham), Sarah P. Young(Duke Medical Center), Mirjam M. C. Wamelink(Amsterdam Neuroscience), Silvia Tortorelli, Olaf A. Bodamer(Broad Institute), Nicola Longo(Center for Human Genetics)
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