肌酸缺乏综合征的实验室诊断 : 美国医学遗传学和基因组学学院的技术标准和指南。
Mesh : Amidinotransferases / blood cerebrospinal fluid deficiency genetics urine Amino Acid Metabolism, Inborn Errors / blood cerebrospinal fluid genetics urine Brain Diseases, Metabolic, Inborn / blood cerebrospinal fluid genetics urine Clinical Laboratory Techniques / methods Creatine / blood cerebrospinal fluid deficiency genetics metabolism urine Developmental Disabilities / blood cerebrospinal fluid genetics urine Genetic Testing / standards Genetics, Medical / standards Genomics Guanidinoacetate N-Methyltransferase / blood cerebrospinal fluid deficiency genetics urine Guidelines as Topic Humans Intellectual Disability / blood cerebrospinal fluid genetics urine Language Development Disorders / blood cerebrospinal fluid genetics urine Mental Retardation, X-Linked / blood cerebrospinal fluid genetics urine Movement Disorders / blood cerebrospinal fluid congenital genetics urine Plasma Membrane Neurotransmitter Transport Proteins / blood cerebrospinal fluid deficiency genetics urine Repressor Proteins / blood cerebrospinal fluid genetics urine Speech Disorders / blood cerebrospinal fluid genetics urine
来 源:
DOI:10.1038/gim.2016.203
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