A Novel Hyperkinetic–Cerebellar Phenotype with Subependymal Nodules in Glutaric Acidemia Type 1
Objective: To describe an unusual phenotype in Glutaric Acidemia Type 1 (GA1) characterized by a hyperkinetic movement disorder, cerebellar syndrome, and subependymal nodules, expanding the…EATING HABITS AND NUTRITIONAL STATUS OF PATIENTS WITH HEREDITARY ATAXIAS IN A NORTHEAST BRAZILIAN POPULATION
Objective: This study aimed to investigate the eating habits, nutritional and metabolic status in patients with hereditary ataxia (HA) in Northeast Brazil. Background: Studies on…Substantial motor and non-motor symptoms in children and adults with classical galactosemia and organic acidurias
Objective: To investigate the prevalence of movement disorders (MDs), their impact on quality of life (QoL) and accompanying non-motor symptoms in patients with classical galactosemia…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.