Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach-论文-万方医学网

Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach

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作者： Loek L. Crefcoeur ^[1] ; Gepke Visser ^[2] ; Sacha Ferdinandusse ^[3] ; Frits A. Wijburg ^[4] ; Mirjam Langeveld ; Barbara Sjouke

作者单位： Department of Metabolic Diseases, Wilhelmina Children's Hospital,University Medical Center Utrecht ^[1] Laboratory Genetic Metabolic Diseases, Amsterdam UMC location Academic Medical Center,University of ^[2] Emma's Children's Hospital, Amsterdam UMC location Academic Medical Center,University of Amsterdam ^[3] Department of Endocrinology and Metabolism, Amsterdam UMC location Academic Medical Center ^[4]

关键词 carnitine clinical characteristics organic cation transporter novel 2 phenotyping primary carnitine deficiency screening

发布时间 2022-07-22

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