Browse Items (6 total)
- Tags: Mutation/genetics
Change in gross motor abilities of girls and women with rett syndrome over a 3- to 4-year period
Tags: 2011, Adolescent, Adult, Age Factors, Arginine/genetics, Australia, Bebbington A, characteristics, Disease Progression, Downs J, Female, Foley K R, Girdler S, Humans, Jacoby P, Journal of Child Neurology, Kaufmann W E, Leonard H, Linear Models, Longitudinal Studies, Methyl-CpG-Binding Protein 2/genetics, Motor Skills/physiology, Movement Disorders/etiology/genetics, Mutation/genetics, Retrospective Studies, Rett syndrome, Rett Syndrome/complications/genetics, tone and motor problems, Trajectory, Young Adult
Linking MECP2 and pain sensitivity: the example of Rett syndrome
Tags: 2010, Adolescent, Adult, Age Distribution, American Journal Of Medical Genetics.Part A, Backlog, Bahi-Buisson N, Bebbington A, Child, Downs J, Geranton SM, Humans, Jacoby P, Journal Article, Leonard H, Methyl-CpG-Binding Protein 2/genetics, Multivariate Analysis, Mutation/genetics, Pain/complications/genetics, Preschool, Ravine D, Rett Syndrome/complications/genetics
The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome
Tags: 2006, Acyl-CoA Dehydrogenase/deficiency/genetics, Adolescent, Adult, Backlog, Child, Cohort Studies, Derks TG, Disease Progression, Gerver WJ, Humans, Inborn Errors/complications/diagnosis/genetics, Infant, Journal Article, Longitudinal Studies, Metabolism, Middle Aged, Mutation/genetics, Netherlands, Newborn, Preschool, Prognosis, Reijngoud DJ, Retrospective Studies, Sauer PJ, Severity Of Illness Index, Smit GP, The Journal Of Pediatrics, van den Berg MP, Waterham HR
Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency
Tags: 2005, Age of Onset, Aged, Atrophy/enzymology/genetics/physiopathology, Backlog, Bodamer OA, Brain Diseases, Carnitine/therapeutic use, Cerebral Cortex/enzymology/pathology/physiopathology, Cognition Disorders/enzymology/genetics/physiopathology, Disease Progression, DNA Mutational Analysis, Food, Formulated, Glutaryl-CoA Dehydrogenase/deficiency, Gruber S, Harting I, Hoffmann GF, Humans, Inborn/enzymology/genetics/physiopathology, Journal Article, Kolker S, Kulkens S, Lateral Ventricles/pathology, Magnetic Resonance Imaging, Male, Metabolic, Movement Disorders/enzymology/genetics/physiopathology, Mutation/genetics, Myelinated/pathology, Nerve Fibers, Neurology, Q3 Scoping Review Results, Sauer S, Treatment Outcome, Zschocke J
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