主题词:Medical Genetics,Precision Medicine,Clinical Genetics,Clinical Genomics,Disorders Of The Body Mass,Genetic Lipodystrophies,Amino Acid Metabolism,Carbohydrate Metabolism,Congenital Disorders Of Protein Glycosylation,Purine And Pyrimidine Metabolism,Lipoprotein And Lipid Metabolism,Organic Acidemias,Disorders Of Fatty Acid Oxidation,Vitamin D Metabolism,Inherited Porphyrias,Human Copper Metabolism,Iron Metabolism,Mucopolysaccharidoses,Oligosaccharidoses,Sphingolipid Disorders,Peroxisomal Disorders,Emery And Rimoin’S Principles And Practice Of Medical Genetics And Genomics, Metabolic Disorders