Browse Items (101 total)
- Tags: Q3 Literature Search
Melatonin treatment for sleep disorders in children with neurodevelopmental disorders: an observational study
Tags: 2002, Adolescent, Child, Child Preschool, Davies P, Developmental Disabilities, Developmental Disabilities/complications, Developmental Medicine and Child Neurology, Dose-Response Relationship Drug, Epilepsy, Epilepsy/complications, Female, Humans, Infant, Lennox-Gastaut syndrome, Leukodystrophy, Male, Medical Records, melatonin, Melatonin/therapeutic use, MPSII, MPSIII, Nervous System Diseases, Nervous System Diseases/complications, Outpatients, pharmacologic intervention, Q3 Literature Search, Ross C, Sex Factors, Sleep Disorders/complications/drug therapy, sleep disturbance/disorders, Sleep Wake Disorders, Vision Disorders, Vision Disorders/complications, Whitehouse W
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 Literature Search, Questionnaires, Sleep Disorders/epidemiology/etiology/therapy, sleep disturbance/disorders, Trajectory, Treatment Outcome, Wraith J E
Melatonin treatment in individuals with intellectual disability and chronic insomnia: a randomized placebo-controlled study
Tags: 2008, Adolescent, Adult, Aged, Braam W, Central Nervous System Depressants/adverse effects/therapeutic use, Child, Child Preschool, chromosome 18q deletion, Chronic Disease, Comorbidity, Curfs L, Didden R, Double-Blind Method, Female, Humans, Journal Of Intellectual Disability Research, Male, melatonin, Melatonin/adverse effects/therapeutic use, Mental Retardation/epidemiology/psychology, Middle Aged, MPS III, pharmacologic intervention, Q3 Literature Search, Saliva, sleep disturbance/disorders, Sleep Initiation and Maintenance Disorders/drug therapy/epidemiology/psychology, Smits M, Time Factors, Treatment Outcome
Behaviour in mucopolysaccharide disorders
Tags: 1995, Aggression, aggressiveness, Archives of Disease in Childhood, Bax M C, Behavior, characteristics, Child, Child Preschool, Child Behavior Disorders/complications, Colville G A, Data Collection, destructiveness, Family Health, Female, Humans, Male, MPSI, MPSII, MPSIII, Mucopolysaccharidoses/complications, Mucopolysaccharidosis II/psychology, Mucopolysaccharidosis III/psychology, Parents, Prevalence, Q3 Literature Search, restlessness, Self-Help Groups, Sleep Disorders/complications, sleep disturbance, Trajectory
Progressive cerebral vascular degeneration with mitochondrial encephalopathy
Tags: 2008, Acyl-CoA Dehydrogenase/deficiency/genetics, American Journal Of Medical Genetics.Part A, Backlog, Brain/blood supply/physiopathology, Cerebrovascular Circulation, Child, Cowan TM, Enns GM, Ernst SL, Female, Gallagher RC, Hedlund GL, Humans, Journal Article, Leu/genetics, Longo N, Magnetic Resonance Angiography, MELAS Syndrome/ge [Genetics], Pasquali M, Pique LM, Point Mutation, Q3 Literature Search, RNA, Schrijver I, Steinberg GK, Transfer, Vogel H
The natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases
Tags: 2008, Adolescent, Adult, Age Factors, Atrophy/complications/pathology, Auditory, Backlog, Bhatia KP, Brain Stem/physiology, Brain/pathology/physiopathology, Cerebellar Ataxia/complications/diagnosis, Cerebellum/pathology/physiopathology, Chew NK, Child, Chromosomes, Cordivari C, Dementia/complications/diagnosis, Diagnosis, Differential, Disease Progression, Dystonia/complications/diagnosis, Edwards MJ, Electroencephalography, Electromyography, Evoked Potentials, Evoked Potentials/physiology, Female, Human, Humans, Journal Article, Kim HT, Magnetic Resonance Imaging, Male, Martino D, Mir P, Movement Disorders: Official Journal Of The Movement Disorder Society, Myoclonus/complications/diagnosis, Neuropsychological Tests, Pair 21/genetics, Q3 Literature Search, Quinn NP, Schneider SA, Seizures/complications/diagnosis, Severity Of Illness Index, Unverricht-Lundborg Syndrome/diagnosis/genetics/physiopathology
Lung disease in Niemann-Pick disease
Tags: 2007, Backlog, Biopsy, Bronchoalveolar Lavage, Bronchoalveolar Lavage Fluid/cytology, Child, Clement A, de Villemeur TB, Diagnosis, Differential, Fauroux B, Female, Guillemot N, Humans, Infant, Interstitial/diagnosis/etiology/physiopathology, Journal Article, Lung Diseases, Male, Niemann-Pick Diseases/complications, Pediatric Pulmonology, Preschool, Prognosis, Q3 Literature Search, Radiography, Respiratory Function Tests, Severity Of Illness Index, Thoracic, Troadec C
The natural history of Niemann-Pick disease type C in the UK
Tags: 2007, Adolescent, Adult, Backlog, Besley GT, Child, Dasgupta S, Female, Fensom AH, Genetic, Great Britain, Harris C, Heptinstall L, Humans, Imrie J, Infant, Jacklin E, Journal Article, Journal Of Inherited Metabolic Disease, Knight S, Lipid Metabolism Disorders/diagnosis/metabolism, Lipids/chemistry, Male, Middle Aged, Models, Newborn, Niemann-Pick Disease, Preschool, Q3 Literature Search, Type C/diagnosis/epidemiology, Vanier MT, Ward C, Whitehouse C, Wraith JE
Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation
Tags: 2007, Adolescent, Adult, Backlog, Child, de Vries M, DNA, DNA Mutational Analysis, European Journal of Paediatric Neurology, Female, Hol F, Humans, Journal Article, MERRF Syndrome/complications/genetics/physiopathology, Mitochondrial/genetics, Morava E, Muscular Diseases/etiology/genetics/physiopathology, Mutation, Pain/etiology/genetics/physiopathology, Pedigree, Polymerase Chain Reaction, Q3 Literature Search, Rodenburg R, Smeitink JA, van de Glind G
Parental perception of cold extremities and other accompanying symptoms in children with cerebral palsy
Tags: 2008, Adolescent, Adult, Backlog, Body Temperature/physiology, Cerebral Palsy/complications/physiopathology, Child, Constipation/etiology, Data Collection, Englund E, European Journal of Paediatric Neurology, Extremities/blood supply/physiology, Female, Health Status, Humans, Journal Article, Male, Malker H, Muscle Tonus/physiology, Pain/etiology, Parents, Preschool, Q3 Literature Search, Questionnaires, Sleep Disorders/etiology, Stener-Victorin E, Svedberg LE
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 Literature Search, 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 Literature Search, Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, van Diggelen OP, Wevers RA, Wijburg FA
Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study
Tags: 1-Deoxynojirimycin/analogs & derivatives/therapeutic use, 2007, Abel L, Adolescent, Adult, Age Factors, Analysis of Variance, Backlog, Child, Cohort Studies, Deglutition/drug effects, Double-Blind Method, Drug Administration Schedule, Enzyme Inhibitors/therapeutic use, Female, Humans, Journal Article, Lancet Neurology, Male, Niemann-Pick Disease, Patterson MC, Prady H, Preschool, Q3 Literature Search, Retrospective Studies, Saccades/drug effects, Severity Of Illness Index, Type C/drug therapy/physiopathology, Vecchio D, Wraith JE
Melatonin treatment in individuals with intellectual disability and chronic insomnia: a randomized placebo-controlled study
Tags: 2008, Adolescent, Adult, Aged, Backlog, Braam W, Central Nervous System Depressants/adverse effects/therapeutic use, Child, Chronic Disease, Comorbidity, Curfs L, Didden R, Double-Blind Method, Female, Humans, Journal Article, Journal Of Intellectual Disability Research, Male, Melatonin/adverse effects/therapeutic use, Mental Retardation/epidemiology/psychology, Middle Aged, Preschool, Q3 Literature Search, Saliva, Sleep Initiation and Maintenance Disorders/drug therapy/epidemiology/psychology, Smits M, Time Factors, Treatment Outcome
Central hypothermia as a cause of acute pancreatitis in children with neurodevelopmental impairment
Tags: 2008, Adolescent, Backlog, Body Temperature Regulation, Child, Cohort Studies, Developmental Disabilities/complications/physiopathology, Developmental Medicine and Child Neurology, Female, Hauer JM, Humans, Hypothermia/complications/prevention & control/psychology, Journal Article, Male, Pancreatitis/diagnosis/etiology/therapy, Preschool, Q3 Literature Search, Recurrence, Retrospective Studies, Risk Factors
Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study
Tags: 2007, Accommodation, Acta Ophthalmologica, Adolescent, Adult, Apraxias/diagnosis, Ataxia Telangiectasia/diagnosis, Backlog, Bek T, Capillaries/pathology, Child, Conjunctiva/blood supply, Conjunctival Diseases/diagnosis, Female, Genotype, Heiberg A, Humans, Journal Article, Lindman C, Male, Norway, Ocular, Ocular Motility Disorders/diagnosis, Phenotype, Photography, Preschool, Prospective Studies, Q3 Literature Search, Riise R, Rodningen OK, Saccades, Stray-Pedersen A, Ygge J
Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up
Tags: 2008, 3-Hydroxyacyl CoA Dehydrogenases/deficiency, Acta Ophthalmologica, Alm J, Atrophy, Backlog, Child, Choroid Diseases/etiology/pathology, Cross-sectional Studies, Disease Progression, Electroretinography, Eye Diseases/diagnosis/etiology/physiopathology, Fahnehjelm KT, Female, Follow-up Studies, Haglind CB, Halldin M, Holmstrom G, Humans, Hypoglycemia/complications, Inborn Errors/complications/genetics, Infant, Journal Article, Male, Metabolism, Mutation, Myopia/etiology/physiopathology, Nemeth A, Nordenstrom A, Preschool, Q3 Literature Search, Retinal Diseases/etiology/pathology, Severity Of Illness Index, Vision Disorders/etiology/physiopathology, Visual Acuity, von Dobeln U, Ying L
Supportive and palliative care needs of families of children with life-threatening illnesses in Western Australia: evidence to guide the development of a palliative care service
Tags: 2007, Aoun S, Backlog, Child, Community Health Nursing/organization & administration/standards, Critical Illness, Family Health, Humans, Journal Article, Kristjanson LJ, Monterosso L, Palliative Care/organization & administration/psychology/standards, Palliative Medicine, Parents/psychology, Patient Care Team, Phillips MB, Q3 Literature Search, Quality of Health Care/organization & administration/standards, Social Support, Terminally Ill, Western Australia
Review: the quality of dying and death: a systematic review of measures
Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases
Tags: 2007, AIM, Backlog, Cause Of Death, Chevalier I, Child, Cohort Studies, Debray FG, Decarie JC, DNA, DNA Fragmentation, Female, Follow-up Studies, HEREDITARY, Humans, IM, Infant, Journal Article, Lambert M, Leber/di [Diagnosis], Leber/ge [Genetics], Leber/mo [Mortality], Longitudinal Studies, Male, MELAS Syndrome/di [Diagnosis], MELAS Syndrome/mo [Mortality], MELAS Syndrome/th [Therapy], Mitchell GA, Mitochondrial Diseases/di [Diagnosis], Mitochondrial Diseases/ge [Genetics], Mitochondrial Diseases/mo [Mortality], Mitochondrial Encephalomyopathies/di [Diagnosis], Mitochondrial Encephalomyopathies/mo [Mortality], Mitochondrial Encephalomyopathies/th [therapy], Mitochondrial Myopathies/di [Diagnosis], Mitochondrial Myopathies/ge [Genetics], Mitochondrial Myopathies/mo [Mortality], Mitochondrial/ge [Genetics], Newborn, Optic Atrophy, Pediatrics, Preschool, Probability, Proportional Hazards Models, Q3 Literature Search, Retrospective Studies, Robinson BH, Robitaille Y, Severity Of Illness Index, Shoubridge EA, Survival Analysis, Time Factors
Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A)
Tags: 2007, Adolescent, Adult, Backlog, Braulke T, Child, Cohort Studies, Disease Progression, Female, Gal A, Humans, Infant, Journal Article, Kossow K, Longitudinal Studies, Male, Meyer A, Mucopolysaccharidosis III/classification/diagnosis/pathology, Muhlhausen C, Muschol N, Newborn, Pediatrics, Preschool, Q3 Literature Search, Questionnaires, Research Design, Ullrich K
The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis
Tags: 2006, Adolescent, AIM, Andersson HC, Anemia/et [Etiology], Archives Of Pediatrics & Adolescent Medicine, Backlog, Bone Diseases/et [Etiology], Child, Female, Gaucher Disease/co [Complications], Gaucher Disease/di [Diagnosis], Growth Disorders/et [Etiology], Hepatomegaly/et [Etiology], Humans, IM, Infant, Journal Article, Kacena KA, Kaplan P, Longitudinal Studies, Male, Newborn, Preschool, Q3 Literature Search, Splenomegaly/et [Etiology], Thrombocytopenia/et [Etiology], Yee JD
The use of clonidine for severe and intractable sleep problems in children with neurodevelopmental disorders--a case series
Tags: 2005, Adolescent, Antipsychotic Agents/administration & dosage/therapeutic use, Attention Deficit Disorder with Hyperactivity/complications/physiopathology, Backlog, Brain/physiopathology, Child, Clonidine/administration & dosage/therapeutic use, Developmental Disabilities/complications/physiopathology, Drug Administration Schedule, European Child & Adolescent Psychiatry, Female, Humans, Ingrassia A, Journal Article, Male, Q3 Literature Search, Severity Of Illness Index, Sleep Disorders/complications/diagnosis/drug therapy, Turk J
An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient
Tags: 2006, Amino Acid Metabolism, Amino Acids/blood, Backlog, Bellizzi A, Burlina AB, Burlina AP, Child, Di Palma A, Diagnosis, Differential, Fatal Outcome, Humans, Inborn Errors/diagnosis, Journal Article, Journal Of Inherited Metabolic Disease, Male, Morrone A, Ornithine Carbamoyltransferase Deficiency Disease/blood/diagnosis, Ornithine Carbamoyltransferase/deficiency, Orotic Acid/urine, Peduto A, Preschool, Q3 Literature Search, Sperli D
Neurologically impaired children and digestive problems
Tags: 2006, Adolescent, Archives de Pediatrie, Backlog, Botulinum Toxin Type A/administration & dosage, Brain Damage, Capito C, Child, Chronic/complications/therapy, Disabled Children, Enteral Nutrition, Follow-up Studies, France, Fundoplication, Gastric Acidity Determination, Gastroesophageal Reflux/complications/therapy, Gastroscopy, Heloury Y, Humans, Infant, Injections, Intramuscular, Journal Article, Leclair MD, Podevin G, Preschool, Prospective Studies, Protein-Energy Malnutrition/etiology/therapy, Q3 Literature Search, Treatment Outcome
A scale to monitor progression and treatment of mitochondrial disease in children.
Tags: 2006, Adolescent, Backlog, Bugiani M, Child, Disability Evaluation, Disease Progression, Elson JL, Female, Great Britain, Humans, Infant, Journal Article, Longitudinal Studies, Male, McFarland R, Mitochondrial Diseases/diagnosis/therapy, Mitochondrial Encephalomyopathies/diagnosis/therapy, Morava E, Neurology/methods, Neuromuscular Disorders, Newborn, Observer Variation, Pediatrics/methods, Phoenix C, Predictive Value of Tests, Preschool, Prognosis, Q3 Literature Search, Reproducibility of Results, Schaefer AM, Smeitink JA, Turnbull DM, Uziel G
Links between abnormal brain structure and cognition in holoprosencephaly
Tags: 2006, Adolescent, Age Factors, Backlog, Benasich AA, Brain/abnormalities, Child, Cognition, Cognition Disorders/pathology, Corpus Striatum/abnormalities, Epilepsy/pathology, Female, Flax J, Hahn JS, Holoprosencephaly/pathology, Humans, Hypothalamus/abnormalities, Infant, Jing H, Journal Article, Kovar C, Male, Motor Skills Disorders/pathology, Neuropsychological Tests, Paterson SJ, Pediatric Neurology, Predictive Value of Tests, Preschool, Q3 Literature Search, Roesler CP, Severity Of Illness Index, Sex Factors, Stashinko EE, Thalamic Nuclei/abnormalities
Pyruvate dehydrogenase E3 binding protein (protein X) deficiency
Tags: 2006, Backlog, Brown GK, Brown RM, Child, Developmental Medicine and Child Neurology, DNA Mutational Analysis, Female, Head RA, Humans, Infant, Journal Article, Male, Morris AA, Preschool, Protein Subunits/deficiency/genetics, Pyruvate Dehydrogenase Complex Deficiency Disease/diagnosis/genetics/metabolism, Pyruvate Dehydrogenase Complex/genetics/metabolism, Q3 Literature Search, Raiman JA, Severity Of Illness Index, Walter JH, Whitehouse WP
Coping with Dravet syndrome: parental experiences with a catastrophic epilepsy
Tags: 2006, Adaptation, Adolescent, Adult, Backlog, Camfield CS, Camfield PR, Caregivers/psychology, Child, Chronic Disease, Developmental Medicine and Child Neurology, Epilepsy/nursing/psychology, Family Health, Female, Humans, Journal Article, Male, Middle Aged, Nolan KJ, Parent-child Relations, Parents/psychology, Preschool, Psychological, Psychological/psychology, Q3 Literature Search, Seizures/nursing/psychology, Severity Of Illness Index, Social Isolation, Social Support, Stress, Syndrome
The ocular features of the mucopolysaccharidoses
Tags: 2006, Adolescent, Adult, Ashworth JL, Backlog, Biswas S, Child, Corneal Opacity/etiology, Eye (london, England), Eye Diseases/etiology, Female, Follow-up Studies, Humans, Infant, Journal Article, Lloyd IC, Male, Mucopolysaccharidoses/complications, Mucopolysaccharidosis I/complications, Mucopolysaccharidosis VI/complications, Ocular Hypertension/etiology, Optic Atrophy/etiology, Papilledema/etiology, Preschool, Q3 Literature Search, Retrospective Studies, Vision Disorders/etiology, Visual Acuity, Wraith E
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 Literature Search, Respiration, Respiration Disorders/etiology/therapy, Reuser AJ, Self-Help Devices/utilization, Van der Ploeg AT, Van Doorn PA, Winkel LP
Impairment of the melatonin rhythm in children with Sanfilippo syndrome
Tags: 2006, Adolescent, Backlog, Child, Circadian Rhythm/physiology, Circadian Rhythm/physiopathology, Diaz-Rodriguez JL, Female, Guerrero JM, Humans, Journal Article, Journal Of Pineal Research, Male, Martinez-Cruz F, Melatonin/analogs & derivatives/physiology/urine, Mucopolysaccharidosis III/physiopathology, Pozo D, Q3 Literature Search, Sleep Disorders, Vela-Campos F
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 Literature Search, 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 Literature Search, Questionnaires, Sleep Disorders/epidemiology/etiology/therapy, Treatment Outcome, Wraith JE
Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations
Tags: 2005, Akman HO, Backlog, Bonilla E, Cytochrome-c Oxidase Deficiency/complications/genetics/pathology, De Vivo DC, DiMauro S, DNA Mutational Analysis, Female, Frameshift Mutation, Humans, Infant, Journal Article, Journal of Child Neurology, Kidney Diseases/etiology, Leigh Disease/complications/genetics/pathology, Male, Membrane Proteins, Mitochondrial Proteins, Morales A, Morales JF, Muscle, Newborn, Phenotype, Proteins/genetics, Q3 Literature Search, Sacconi S, Shanske S, Skeletal/pathology, Tay SK
A 3-year-old child with abdominal pain and fever
Tags: 2005, Abdominal Pain/diagnosis/etiology, Backlog, Baraldi E, Bonetto G, Carraro S, Child, Fever of Unknown Origin/diagnosis/etiology, Humans, Journal Article, Male, Niemann-Pick Diseases/complications/diagnosis, Preschool, Q3 Literature Search, Scarpa M, The European Respiratory Journal : Official Journal Of The European Society For Clinical Respiratory Physiology
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency
Tags: 2006, Adolescent, Backlog, Bohm M, Carrier Proteins, Child, Cytochrome-c Oxidase Deficiency/diagnosis/genetics/mortality, Czech Republic, DNA, Female, Hansikova H, Houstek J, Houstkova H, Humans, Infant, Journal Article, Karczmarewicz E, Male, Membrane Proteins, Mierzewska H, Mitochondrial Proteins, Mitochondrial/genetics, Mutation, Newborn, Pediatric Research, Piekutowska-Abramczuk D, Poland, Preschool, Prognosis, Pronicka E, Pronicki M, Proteins/genetics, Q3 Literature Search, Sequence Deletion, Slovakia, Sykut-Cegielska J, Tesarova M, Vesela K, Zeman J
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 Literature Search, 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 Literature Search, Sauer S, Treatment Outcome, Zschocke J
Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials
Tags: 2006, Aron A, Backlog, Brodie SE, Child Development, Desnick RJ, Female, Humans, Infant, Infant Behavior, Journal Article, Language Development, Longevity, Male, McGovern MM, Motor Skills, Muscle Hypotonia/etiology/physiopathology, Neurodegenerative Diseases/complications/physiopathology/psychology, Neurology, Niemann-Pick Diseases/classification/complications/physiopathology/psychology, Q3 Literature Search, Reflex, Respiratory Insufficiency/etiology/mortality, Stretch, Wasserstein MP