Browse Items (25 total)
- Tags: Age of Onset
Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale
Tags: 2005, Adolescent, Adult, Age of Onset, Arm/pp [Physiopathology], Ashizawa T, Brain Stem/pp [Physiopathology], Cooperative Ataxia Group, Disease Progression, Female, Fischbeck K, Friedreich Ataxia/di [Diagnosis], Friedreich Ataxia/pp [Physiopathology], Friedreich's ataxia, Friedrich's Ataxia Scale, Gait Disorders, Gomez C, Hallett M, Lynch D, May W, Neurologic/di [Diagnosis], Neurologic/et [Etiology], Neurology, scale development, Subramony S H, Taylor P, tone and motor problems, tool development, Wilson R
Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale
Tags: 2006, Adolescent, Adult, Age of Onset, Carrier Proteins/ge [Genetics], cerebellar ataxia/di [Diagnosis], Cerebellar Ataxia/ep [Epidemiology], Cerebellar Diseases/di [Diagnosis], Cerebellar Diseases/ep [Epidemiology], Child, Coll M J, Comorbidity, Disability, Dysarthria/di [Diagnosis], Dysarthria/ep [Epidemiology], Evaluation, feeding difficulties, Female, Fernandez-Valero E M, Genetic Predisposition to Disease/ge [Genetics], Infant, Iturriaga C, Journal Of The Neurological Sciences, NPC, Pineda M, Preschool, scale development, sleep disturbance, tone and motor problems, tool development, Vanier M T
Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study
Tags: 2005, Adolescent, Adult, Age of Onset, Archives of Disease in Childhood, Behavior Therapy, Benzodiazepines, characteristics, Child, Child Preschool, Delatycki M B, Fraser J, Gason A A, Humans, Incidence, Infant, Infant Newborn, melatonin, Melatonin/therapeutic use, MPS III, Mucopolysaccharidosis III/psychology, Preschool, Q3 Scoping Review Results, Questionnaires, Sleep Disorders/epidemiology/etiology/therapy, sleep disturbance/disorders, Trajectory, Treatment Outcome, Wraith J E
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients
Tags: 2007, Adolescent, Adult, Age of Onset, Backlog, Baethmann M, Child, Disease Progression, Electromyography, Female, Gempel K, Glycogen Storage Disease Type II/diagnosis/physiopathology, Horvath R, Humans, Journal Article, Limb-Girdle, Lochmuller H, Longitudinal Studies, Male, Middle Aged, Mueller-Felber W, Muscle Weakness, Muscular Dystrophies, Neuromuscular Disorders, Podskarbi T, Pongratz D, Preschool, Q3 Scoping Review Results, Respiration Disorders/etiology, Retrospective Studies, Schlotter-Weigel B, Schoser B, Shin Y, Walter MC
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands
Tags: 2008, Acetyltransferases/chemistry/deficiency/genetics, Adolescent, Adult, Age of Onset, Backlog, Child, DNA Mutational Analysis, DNA/genetics, Durand S, Female, Genotype, Humans, Infant, Journal Article, Male, Middle Aged, Missense, Models, Molecular, Molecular Genetics and Metabolism, Mucopolysaccharidosis III/classification/enzymology/genetics/physiopathology, Mutation, Netherlands, Phenotype, Poorthuis BJ, Preschool, Pshezhetsky AV, Q3 Scoping Review Results, Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, van Diggelen OP, Wevers RA, Wijburg FA
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients
Tags: 2005, 80 And Over, Adolescent, Adult, Age Distribution, Age of Onset, Aged, Artificial/utilization, Backlog, Brain, Child, Fatigue/etiology, Glycogen Storage Disease Type II/complications/diagnosis/rehabilitation, Hagemans ML, Hop WJ, Humans, Journal Article, Loonen MC, Middle Aged, Movement Disorders/etiology, Pain/etiology, Preschool, Prognosis, Q3 Scoping Review Results, Respiration, Respiration Disorders/etiology/therapy, Reuser AJ, Self-Help Devices/utilization, Van der Ploeg AT, Van Doorn PA, Winkel LP
Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey
Tags: 2006, Acta Paediatrica, Adolescent, Age of Onset, alpha-Galactosidase/metabolism/therapeutic use, Backlog, Beck M, Child, DNA Mutational Analysis, Fabry Disease/diagnosis/drug therapy/physiopathology, Female, FOS European Investigators, Heterozygote, Humans, Isoenzymes/therapeutic use, Journal Article, Male, Mehta A, Outcome Assessment (health Care), Parini R, Pintos-Morell G, Preschool, Q3 Scoping Review Results, Ramaswami U, Sunder-Plassmann G, Whybra C, Widmer U
Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study
Tags: 2005, Adolescent, Adult, Age of Onset, Archives of Disease in Childhood, Backlog, Behavior Therapy, Child, Delatycki MB, Fraser J, Gason AA, Humans, Incidence, Infant, Journal Article, Melatonin/therapeutic use, Mucopolysaccharidosis III/psychology, Newborn, Preschool, Q3 Scoping Review Results, Questionnaires, Sleep Disorders/epidemiology/etiology/therapy, Treatment Outcome, Wraith JE
Disease severity in children and adults with Pompe disease related to age and disease duration
Tags: 2005, 80 And Over, Activities of Daily Living, Adolescent, Adult, Age Factors, Age of Onset, Aged, Artificial/statistics & numerical data, Backlog, Child, Cross-sectional Studies, Disease Progression, Female, Glycogen Storage Disease Type II/diagnosis/epidemiology/physiopathology, Hagemans ML, Hop WC, Humans, Infant, Journal Article, Male, Middle Aged, Muscle, Neurology, Newborn, Preschool, Q3 Scoping Review Results, Questionnaires, Respiration, Respiratory Insufficiency/epidemiology/etiology/therapy, Reuser AJ, Severity Of Illness Index, Skeletal/physiopathology, Van der Ploeg AT, Van Doorn PA, Wheelchairs/statistics & numerical data, Winkel LP
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
Course of disability and respiratory function in untreated late-onset Pompe disease
Tags: 2006, 80 And Over, Adolescent, Adult, Age of Onset, Aged, Backlog, Child, Disabled Persons, Disease Progression, Female, Follow-up Studies, Glycogen Storage Disease Type II/physiopathology, Hagemans ML, Hop WJ, Humans, Journal Article, Male, Middle Aged, Neurology, Preschool, Q3 Scoping Review Results, Questionnaires, Respiratory Function Tests, Reuser AJ, Time Factors, Van der Ploeg AT, Van Doorn PA
Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes
Tags: 2003, Age of Onset, Annals Of Neurology, Aromatic-L-Amino-Acid Decarboxylases/cerebrospinal fluid/deficiency/genetics, Autonomic Nervous System Diseases/genetics/physiopathology, Backlog, Child, Consanguinity, Female, Hemodynamics/physiology, Humans, Hyland K, Infant, Journal Article, Longitudinal Studies, Magnetic Resonance Imaging, Male, McKenna CE, Movement Disorders/genetics/physiopathology, Nervous System Diseases/cerebrospinal fluid/genetics/physiopathology, Newborn, Nitroprusside/diagnostic use, Pedigree, Preschool, Q3 Scoping Review Results, Saul JP, Speller NB, Swoboda KJ, Treatment Outcome, Vasodilator Agents/diagnostic use
Prevalence and progression of mitochondrial diseases: a study of 50 patients
Tags: 2003, Adolescent, Adult, Age of Onset, Aged, Arenas J, Arpa J, Arpa-Fernandez A, Backlog, Campos Y, Chronic Progressive External/ep [Epidemiology], Chronic Progressive External/ge [Genetics], Chronic Progressive External/pa [Pathology], Cruz-Martinez A, Del Hoyo P, Disease Progression, DNA, Electromyography, Epilepsies, Female, Garcia-Rio F, Gutierrez-Molina M, Humans, IM, Journal Article, Lactic Acid/bl [Blood], Male, Martin MA, MELAS Syndrome/ep [Epidemiology], MELAS Syndrome/ge [Genetics], MELAS Syndrome/pa [Pathology], Middle Aged, Mitochondrial Diseases/ep [Epidemiology], Mitochondrial Diseases/ge [Genetics], Mitochondrial Diseases/pa [Pathology], Mitochondrial/ge [Genetics], Muscle, Muscle & Nerve, Myoclonic/ep [Epidemiology], Myoclonic/ge [Genetics], Myoclonic/pa [Pathology], Neural Conduction/ph [Physiology], Ophthalmoplegia, Perez-Conde C, Phenotype, Rubio JC, Skeletal/pa [Pathology], Spain/ep [Epidemiology], Survival Analysis
Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia
Tags: 2003, Adolescent, Adult, Age of Onset, Backlog, Carbohydrate-Deficient Glycoprotein Syndrome/complications/diagnosis/genetics, Child, Cormier-Daire V, De Lonlay P, Female, Heron D, Humans, Infant, Journal Article, Male, Matthijs G, Mental Disorders/diagnosis/etiology/genetics, Merzoug V, Mikaeloff Y, Miossec-Chauvet E, Nervous System Diseases/diagnosis/etiology/genetics, Neuropediatrics, Ponsot G, Preschool, Q3 Scoping Review Results, Retrospective Studies, Seta N, Severity Of Illness Index, Van Hulle C
The clinical spectrum of mitochondrial disease in 75 pediatric patients
Tags: 2003, Adolescent, Age of Onset, Backlog, Bernert G, Child, Clinical Pediatrics, Female, Humans, Infant, Journal Article, Konstantopoulou V, Male, Mitochondrial Diseases/diagnosis/epidemiology, Newborn, Plecko-Startinig B, Preschool, Q3 Scoping Review Results, Retrospective Studies, Skladal D, Sperl W, Stockler-Ipsiroglu S, Sudmeier C, Zeman J
Oral pharmacotherapy of childhood movement disorders
Tags: 2003, Administration, Age of Onset, Ataxia/drug therapy, Backlog, Basal Ganglia/physiopathology, Child, Edgar TS, Humans, Hyperkinesis/drug therapy, Hypokinesia/drug therapy, Journal Article, Journal of Child Neurology, Movement Disorders/drug therapy/physiopathology, Muscle Hypotonia/drug therapy/physiopathology, Muscle Spasticity/drug therapy, Neuromuscular Agents/administration & dosage, Oral, Posture
Natural history of nonketotic hyperglycinemia in 65 patients
Tags: 2004, Adolescent, Age of Onset, AIM, Anticonvulsants/tu [Therapeutic Use], Apnea/et [Etiology], Apnea/th [Therapy], Applegarth D, Artificial, Backlog, Child, Corpus Callosum/ab [Abnormalities], Disease Progression, Female, Glycine/bl [Blood], Glycine/cf [Cerebrospinal Fluid], Hamosh A, Health Surveys, Hoover-Fong JE, Humans, Hydrocephalus/ep [Epidemiology], Hydrocephalus/et [Etiology], Hyperglycinemia, IM, Infant, Journal Article, Juvenile/dt [Drug Therapy], Juvenile/ep [Epidemiology], Juvenile/et [Etiology], Male, Myoclonic Epilepsy, Neurology, Newborn, Nonketotic/co [Complications], Nonketotic/ep [Epidemiology], Nonketotic/me [Metabolism], Nonketotic/mo [Mortality], Nystagmus, Pathologic/ep [Epidemiology], Pathologic/et [Etiology], Pregnancy, Pregnancy Complications/ep [Epidemiology], Preschool, Psychomotor Disorders/ep [Epidemiology], Psychomotor Disorders/et [Etiology], Questionnaires, Registries, Respiration, Retrospective Studies, Seizures/dt [Drug Therapy], Seizures/ep [Epidemiology], Seizures/et [Etiology], Sex Factors, Shah S, Survival Analysis, Toone J, Van Hove JL
Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
Tags: 2004, Adolescent, Age of Onset, Backlog, Belmont JW, Cardiomyopathies/etiology/mortality, Child, Craigen WJ, DNA, Electron Transport, Electron Transport Chain Complex Proteins/deficiency, Female, Fernbach SD, Humans, Hunter JV, Infant, Journal Article, Male, Mitochondrial, Mitochondrial Diseases/complications/genetics/mortality, Mutation, Neish SR, Neuromuscular Diseases/etiology/mortality, Newborn, Non-U.S. Gov't, Pediatrics, Preschool, Research Support, Retrospective Studies, Scaglia F, Smith EO, Survival Analysis, Towbin JA, Vladutiu GD, Vogel H, Ware SM, Wong LJ
Niemann-Pick disease type C: From bench to bedside.
Tags: 1996, Adult, Age of Onset, Backlog, Cholesterol/metabolism, Disease Progression, Esterification, Female, Fibroblasts/pathology, Foam Cells/pathology, Genetic Counseling, Histiocytes/pathology, Humans, Infant, Intelligence Tests, JAMA, Jaundice, Journal Article, Longitudinal Studies, Male, Neonatal/etiology, Nervous System Diseases/etiology, Newborn, Niemann-Pick Diseases/diagnosis/genetics/pathology/physiopathology/therapy, Schiffmann R, Splenomegaly/etiology
Niemann-Pick disease type C: Two cases and an update.
Tags: 2000, Adolescent, Age of Onset, Backlog, Cells, Cholesterol/metabolism, Cultured, Diagnosis, Differential, Disease Progression, Esterification, Female, Fibroblasts/metabolism, Humans, Jankovic J, Journal Article, Longitudinal Studies, Male, Middle Aged, Movement Disorders: Official Journal Of The Movement Disorder Society, Niemann-Pick Diseases/diagnosis/physiopathology, Skin/pathology, Uc EY, Wenger DA
Neuronal ceroid-lipofuscinosis: A clinical and morphological study of 19 patients.
Tags: 1995, Adolescent, Adult, Age of Onset, American Journal Of Medical Genetics, Angelini L, Atrophy, Backlog, Binelli S, Brain/pathology/radiography, Bugiani O, Cerebellum/pathology, Child, Female, Follow-up Studies, Humans, Infant, Journal Article, Longitudinal Studies, Magnetic Resonance Imaging, Male, Nardocci N, Neuronal Ceroid-Lipofuscinoses/diagnosis/physiopathology, Preschool, Time Factors, Tomography, Verga ML, X-Ray Computed, Zorzi G
The natural history of degenerative ataxia: a retrospective study in 466 patients
Tags: 1998, Abele M, Adolescent, Adult, Age of Onset, Aged, Backlog, Boesch S, Brain, Brice A, Burk K, Cerebellar Ataxia/genetics/mortality/physiopathology, Child, Dichgans J, Disease Progression, Female, Friedreich Ataxia/genetics/mortality/physiopathology, Gait, Humans, Inzelberg R, Journal Article, Klockgether T, Kramer B, Laccone F, Lopes-Cendes I, Ludtke R, Male, Middle Aged, Multiple System Atrophy/genetics/mortality/physiopathology, Preschool, Prognosis, Q3 Scoping Review Results, Retrospective Studies, Riess O, Risk Factors, Schols L, Sex Characteristics, Spinocerebellar Degenerations/genetics/mortality/physiopathology, Survival Analysis, Time Factors, Trinucleotide Repeats, Wheelchairs, Zilber N
Late onset globoid cell leukodystrophy (Krabbe's disease)--Swedish case with 15 years of follow-up.
Tags: 1995, Acta Paediatrica, Adult, Age of Onset, Arvidsson J, Backlog, Epilepsy/etiology, Follow-up Studies, Galactosylceramidase/blood, Globoid Cell/complications/enzymology/radiography, Hagberg B, Humans, Journal Article, Leukodystrophy, Longitudinal Studies, Male, Mansson JE, Musculoskeletal Equilibrium, Svennerholm L, Sweden, Tomography, Vision Disorders/etiology, X-Ray Computed
Nova Scotia Niemann-Pick disease (type D): Clinical study of 20 cases.
Cause of Death in Children With Mitochondrial Diseases
Tags: 2017, Age of Onset, Cause Of Death, Child, Children, Eom S, February 2018 List, Female, Follow-up Studies, Humans, Kang HC, Kim HD, Lee HN, Lee JS, Lee S, Lee YM, Male, mitochondrial disease, Mitochondrial Diseases, Mitochondrial Diseases/ mortality, Mortality, Only Child, Pediatric, Pediatric Neurology, Preschool, risk factor