NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges - Good, Jean-Marc; Atallah, Isis; Castro Jimenez, Mayte; Benninger, David; Kuntzer, Thierry; Superti-Furga, Andrea; Tran, Christel (Genes, 2021)
Keywords: adrenal cortex hormones; Adrenoleukodystrophy; adulthood; Age; Ataxia; Brain damage; Case Report; Case studies; cataract; Chenodeoxycholic acid; childhood; Children; Cognitive ability; cognitive disorders; Corticosteroids; Diagnosis; Disease; Dystonia; Epilepsy; Genes; Genetic counseling; Genomics; Genotype & phenotype; Glucose; Glucose transporter; glucose transporters; High fat diet; homozygosity; Hormone replacement therapy; Ketogenesis; ketogenic diet; Laboratories; Low carbohydrate diet; Metabolism; Movement disorders; Nervous system; Neurological diseases; Next-generation sequencing; Paralysis; pathophysiology; Patients; phenotype; Phenotypes; Phenylketonuria; Spastic paraplegia; women; Xanthomatosis; United States--US