Browse Items (11 total)
- Tags: NCL3
Anti-parkinson drugs in the Batten-Spielmeyer-Vogt syndrome; a pilot trial
Tags: 1982, Adolescent, Adult, amantadine, Amantadine/therapeutic use, Antiparkinson Agents/therapeutic use, Benserazide/therapeutic use, Clinical Neurology and Neurosurgery, Drug Combinations/therapeutic use, Humans, Levodopa/therapeutic use, Lipidoses/drug therapy, madopar, NCL3, orfenadrine, pharmacologic intervention, Psychoses Substance-Induced/etiology, Syndrome, tone and motor problems, van der Zee H J, van Nieuwenhuizen O, Zweije-Hofman I L
Supplementation with carnitine reduces the severity of constipation: A retrospective study of patients with severe motor and intellectual disabilities
Tags: 102767-28-2 (levetiracetam), 1069-66-5 (valproic acid), 1309-48-4 (magnesium oxide), 1317-74-4 (magnesium oxide), 14093-02-8 (iron), 14378-32-6 (zinc), 146-22-5 (nitrazepam), 1622-61-3 (clonazepam), 2017, 22316-47-8 (clobazam), 298-46-4 (carbamazepine), 461-06-3 (carnitine), 50-06-6 (phenobarbital), 53858-86-9 (iron), 541-15-1 (carnitine), 56-99-5 (carnitine), 57-30-7 (phenobarbital), 57-88-5 (cholesterol), 59-30-3 (folic acid), 6484-89-5 (folic acid), 68291-97-4 (zonisamide), 7439-89-6 (iron), 7440-66-6 (zinc), 7782-49-2 (selenium), 8028-68-0 (phenobarbital), 8047-84-5 (carbamazepine), 84057-84-1 (lamotrigine), 99-66-1 (valproic acid), acute brain disease, Adult, albumin, albumin blood level, anticonvulsant therapy, Aomatsu T, Article, bacterial meningitis, bed rest, body mass, brain infarction, carbamazepine/dt [Drug Therapy], carnitine, carnitine deficiency, carnitine deficiency/dt [Drug Therapy], carnitine/dt [Drug Therapy], Cerebral Palsy, Child, cholesterol blood level, cholesterol/ec [Endogenous Compound], Clinical Article, Clinical Trial, clobazam/dt [Drug Therapy], clonazepam/dt [Drug Therapy], Constipation, constipation/dt [Drug Therapy], constipation/pc [Prevention], Controlled Study, copper blood level, cupric ion/ec [Endogenous Compound], diet supplementation, Disease Severity, Endogenous Compound, enema/dt [Drug Therapy], enteric feeding, epilepsy/dt [Drug Therapy], Female, folic acid, folic acid blood level, folic acid/ec [Endogenous Compound], Gene Expression, groups by age, Hospital, Human, Human Tissue, infantile spasm, Inoue K, Intellectual Impairment, iron blood level, iron/ec [Endogenous Compound], Journal of Clinical Biochemistry and Nutrition, lamotrigine/dt [Drug Therapy], levetiracetam/dt [Drug Therapy], magnesium oxide/dt [Drug Therapy], Male, Medical Record Review, Middle Aged, motor dysfunction, Murata S, NCL3, neuronal ceroid lipofuscinosis, nitrazepam/dt [Drug Therapy], Pelizaeus Merzbacher disease, Pelizaeus- Merzbacher disease, periventricular leukomalacia, pharmacologic intervention, phenobarbital/dt [Drug Therapy], prealbumin, prealbumin/ec [Endogenous Compound], Preschool Child, Retrospective Study, School Child, selenium blood level, selenium/ec [Endogenous Compound], sex difference, Tamai H, trace element, Tuberous Sclerosis, valproic acid, valproic acid/dt [Drug Therapy], West syndrome, Yoden A, Young Adult, zinc/ec [Endogenous Compound], zonisamide/dt [Drug Therapy]
Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities
Effective treatment of spasticity using dronabinol in pediatric palliative care
CIRCADIAN-RHYTHM STUDIES IN NEURONAL CEROID-LIPOFUSCINOSIS (NCL)
Tags: 1995, Alila A, American Journal Of Medical Genetics, body temperature, characteristics, Children, circadian rhythms, cortisol, disturbance, Genetics & Heredity, Hatonen T H, Heikkila E, Heiskala H, Laakso M L, melatonin, mental handicap, Motor Activity, NCL3, neuronal ceroid lipofuscinosis, Radioimmunoassay, retina, Salmi T, Santavuori P, Sleep, sleep disturbance/disorders, Telakivi T, Trajectory
Sleep alterations in juvenile neuronal ceroid-lipofuscinosis
Tags: 2000, Adolescent, Adult, Age Factors, Brain, Case-Control Studies, characteristics, Child, Female, Genotype, Hamalainen M, Humans, Kirveskari E, Larsen A, Male, NCL3, Neuronal Ceroid-Lipofuscinoses, Partinen M, Pediatric Neurology, Polysomnography, Sainio K, Salmi T, Santavuori P, Severity Of Illness Index, Sleep REM, sleep disturbance/disorders, Sleep Stages, Sleep Wake Disorders, Telakivi T, Trajectory
A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease)
Tags: 2011, Adams H, Adolescent, Adult, Analysis of Variance, Augustine E F, Beck C A, Child, Child Preschool, Cialone J, Cross-sectional Studies, Deblieck E A, Disabled Persons, Disease Progression, Dure L S, Genotype, Homozygote, Humans, Kwon J M, Levy E, Marshall F J, Membrane Glycoproteins, Mink J W, Molecular Chaperones, Mutation, NCL3, Neurology, Neuronal Ceroid-Lipofuscinoses, Neuropsychological Tests, Newhouse N J, Prospective Studies, Ramirez-Montealegre D, Regression Analysis, Reproducibility of Results, Rose K R, Rothberg P G, scale development, tone and motor problems, tool development, UBDRS, Vierhile A, Young Adult
Melatonin ineffective in neuronal ceroid lipofuscinosis patients with fragmented or normal motor activity rhythms recorded by wrist actigraphy
Tags: 0 (Antioxidants), 1999, Adolescent, Adult, Antioxidants/tu [Therapeutic Use], Child, Circadian Rhythm, Dose-Response Relationship, Drug Electrophysiology, Female, Hätönen T, Heiskala H, Humans, JL5DK93RCL (Melatonin), Kirveskari E, Laakso M L, Male, melatonin, Melatonin/tu [Therapeutic Use], Molecular Genetics and Metabolism, NCL3, Neuronal Ceroid-Lipofuscinoses/dt [Drug Therapy], pharmacologic intervention, Sainio K, Santavuori P, sleep disturbance/disorders, Sleep Wake Disorders/th [Therapy]
Females experience a more severe disease course in batten disease
Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis
Tags: 2006, Adams H, batten-disease, behavioral problems, characteristics, childhood, Children, De Blieck E A, Developmental Medicine and Child Neurology, Dure L, Epilepsy, impairments, Kwon J, Marshall F J, Mink J W, NCL3, NCL6, Neurosciences & Neurology, Pearce D A, Pediatrics, psychiatric problems, Ramirez-Montealegre D, Rothberg P G, Scale, Symptoms, Trajectory, Validity