Browse Items (3 total)
- Tags: Glutaryl-CoA Dehydrogenase
Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations
Tags: 1994, Adolescent, Amino Acid Metabolism Inborn Errors/genetics/physiopathology/therapy, Brain/pathology/physiopathology, Carlsson G, characteristics, Child, Child Preschool, Combined Modality Therapy, Disability Evaluation, Dysarthria/genetics/physiopathology/therapy, Dystonia/genetics/physiopathology/therapy, dystonic-dyskinesia disorder, Female, Fossen A, Glutarates/urine, Glutaric acidemia type I, Glutaryl-CoA Dehydrogenase, Holme I, Humans, hyperkinetic disorder, Infant, Infant Newborn, Intellectual Disability/genetics/physiopathology/therapy, Jellum E, Kyllerman M, Lundberg M, Male, Movement Disorders, Movement Disorders/genetics/physiopathology/therapy, Neurologic Examination, Neuropsychological Tests, Oxidoreductases Acting on CH-CH Group Donors, Oxidoreductases/deficiency, Skjeldal O H, Tomography X-Ray Computed, tone and motor problems, Trajectory, von Dobeln U
Type I glutaric aciduria, part 1: natural history of 77 patients
Tags: 2003, American Journal Of Medical Genetics.Part C, Seminars In Medical Genetics, Backlog, Brain Diseases, Chromosomes, Dystonia/complications, Glutarates/urine, Glutaryl-CoA Dehydrogenase, Human, Humans, Inborn/complications/diet therapy/drug therapy/genetics, Journal Article, Lysine/metabolism, Magnetic Resonance Imaging, Metabolic, Morton DH, Mutation/genetics, Necrosis, Oxidoreductases Acting on CH-CH Group Donors/deficiency/genetics/metabolism, Pair 19/genetics, Puffenberger EG, Putamen/blood supply/pathology, Q3 Scoping Review Results, Robinson DL, Strauss KA, Tryptophan/metabolism
Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1
Tags: 2004, Adolescent, Adult, Amino Acid Metabolism, Backlog, Child, Christensen E, European Journal of Paediatric Neurology, Female, Finland/epidemiology, Follow-up Studies, Glutarates/urine, Glutaryl-CoA Dehydrogenase, Hagberg G, Holme E, Humans, Inborn Errors/complications/diagnosis/mortality, Infant, Journal Article, Kyllerman M, Lonnquist T, Male, Nervous System Diseases/etiology, Newborn, Oxidoreductases Acting on CH-CH Group Donors/deficiency, Preschool, Prognosis, Q3 Scoping Review Results, Rotwelt T, Scandinavia/epidemiology, Skjeldal O, Skov L, Survival Rate, Time Factors, von Dobeln U