小结
定义
病史和体格检查
诊断性检查
治疗流程
撰稿人
作者
Joseph I. Wolfsdorf, MB, BCh, DCH, FCP, FAAP
Professor of Pediatrics
Harvard Medical School
Division of Endocrinology
Boston Children's Hospital
Boston
MA
利益声明
JIW is an author of a number of references cited in this topic. He is also a section editor of Pediatric Endocrinology for UpToDate, for which he receives royalties. JIW has received consulting fees for serving on the data safety monitoring board for clinical trials performed by Ultragenyx and Xeris pharmaceuticals.
Michael A. Dedekian, MD
Assistant Professor of Pediatrics
Tufts University School of Medicine
Barbara Bush Children's Hospital
Portland
ME
利益声明
MAD declares that he has no competing interests.
同行评议者
David A. Weinstein, MD, MMSc
Director
Glycogen Storage Disease Program
University of Florida College of Medicine
Gainesville
FL
利益声明
DAW declares that he has no competing interests.
Philip Lee, MBBS
Consultant and Honorary Reader in Inherited Metabolic Disease
Charles Dent Metabolic Unit
National Hospital for Neurology and Neurosurgery
Queen Square
London
UK
利益声明
PL declares that he has no competing interests. We have since been made aware that Dr Philip Lee is deceased.
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