作者：Lau Adeline A; King Barbara M; Thorsen Carly L; Hassiotis Sofia; Beard Helen; Trim Paul J; Whyte Lauren S; Tamang Sarah J; Duplock Stephen K; Snel Marten F; Hopwood John J; Hemsley Kim M
来源：Journal of Inherited Metabolic Disease, 2017, 40(5): 715-724.
DOI：10.1007/s10545-017-0044-4
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