Browse Items (46 total)
- Tags: Disease Progression
Disease trajectories and ACT/RCPCH categories in paediatric palliative care
Tags: 2010, Attitude To Health, Backlog, Barnes E, Caregivers, Caregivers/psychology, Child, Disease Progression, Family, Family/psychology, Female, Focus Groups, Hain R, Humans, Interviews As Topic, Journal Article, Male, Palliative Care, Palliative Care/psychology, Palliative Medicine, PEDI Study, Professional-family Relations, Qualitative Research, Simpson S, Wales, Wood F
The natural history of type B Niemann-Pick disease: Results from a 10-year longitudinal study.
Tags: 2004, Adolescent, Adult, Backlog, Blood Cell Count, Child, Desnick RJ, Disease Progression, Female, Genotype, Hossain S, Humans, Hypersplenism/etiology, Journal Article, Lamm C, Leukopenia/etiology, Lipids/blood, Liver/physiopathology, Longitudinal Studies, Male, McGovern MM, Middle Aged, Niemann-Pick Diseases/blood/complications/genetics/physiopathology, Pediatrics, Phenotype, Preschool, Q3 Scoping Review Results, Respiratory Physiology, Schuchman EH, Splenomegaly/etiology, Thrombocytopenia/etiology, Wallenstein S, Wasserstein MP
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature
Tags: 2003, AIM, alpha-Glucosidases/ge [Genetics], alpha-Glucosidases/me [Metabolism], Backlog, Bakker HD, Blood Chemical Analysis, Brain/pa [Pathology], Cardiomegaly/di [Diagnosis], Cardiomegaly/et [Etiology], Child Development, de Klerk JB, Disease Progression, Glycogen Storage Disease Type II/co [Complications], Glycogen Storage Disease Type II/mo [Mortality], Glycogen Storage Disease Type II/pp [Physiopathology], Hop W, Humans, IM, Infant, Journal Article, Loonen MC, Mutation, Netherlands/ep [Epidemiology], Newborn/gd [Growth & Development], Pediatrics, Poll-The BT, Premature, Reuser AJ, Smeitink JA, Smit GP, Survival Analysis, van den Hout HM, Van der Ploeg AT, van Diggelen OP
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
Quantitative estimation of rare adverse events which follow a biological progression: a new model applied to chronic NSAID use
Tags: 2000, Anti-Inflammatory Agents, Backlog, Cohort Studies, Databases, Death, Digestive System, Disease Progression, Endoscopy, Factual, Gastrointestinal Hemorrhage/chemically induced/mortality, Humans, Journal Article, McQuay HJ, Models, Moore RA, Non-Steroidal/adverse effects, Non-U.S. Gov't, Pain, Peptic Ulcer Perforation/chemically induced/mortality, Research Support, Reynolds DJ, Risk Assessment, statistical, Tramer MR
The biochemical basis of metabolism in cancer cachexia
Tags: 2004, Anorexia/etiology, Antineoplastic Agents/therapeutic use, Appetite Stimulants/therapeutic use, Backlog, Cachexia/etiology/metabolism/mortality/physiopathology/therapy, Carbohydrate Metabolism, Cytokines/antagonists & inhibitors/physiology, Dimensions Of Critical Care Nursing, Disease Progression, Energy Metabolism, Humans, Hydrazines/therapeutic use, Journal Article, Lipid Metabolism, Neoplasms/complications, Nutritional Failure, Nutritional Support/methods, Proteins/metabolism, Survival Rate, Tijerina AJ, Weight Loss
The clinical course of childhood and adolescent adrenoleukodystrophy before and after Lorenzo's oil
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
Follow-up in children with Joubert syndrome
Tags: 1997, Adolescent, Adult, Ataxia/diagnosis/genetics/physiopathology, Backlog, Boltshauser E, Cerebellum/abnormalities, Child, Cross-sectional Studies, Developmental Disabilities/diagnosis/genetics/physiopathology, Disease Progression, Disease Specific, Facies, Female, Follow-up Studies, Humans, Infant, Journal Article, Kidney Diseases/complications, Landau K, Male, Mental Retardation/complications, Mesencephalon/abnormalities, Muscle Hypotonia/diagnosis/genetics/physiopathology, Neuropediatrics, Newborn, Ocular Motility Disorders/complications, Preschool, Respiration Disorders/complications, Retrospective Studies, Schmid M, Steinlin M, Survivors/classification, Syndrome
Impact on parents when a child has a progressive, life-threatening illness.
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
What's Missing in Missing Data? Omissions in Survey Responses among Parents of Children with Advanced Cancer
Tags: 2014, Adolescent, Adult, Backlog, Disease Progression, Dussel V, Female, Feudtner C, Geyer JR, Humans, Journal Article, Journal of Palliative Medicine, Kang TI, Life Expectancy, Male, Neoplasms, Orellana L, Parents, prog, Prognosis, Quality Of Life, Questionnaires, Research, Rosenberg AR, surveys, Wolfe J
Trends in incidence, prevalence, and mortality of neuromuscular disease in Ontario, Canada: a population-based retrospective cohort study (2003-2014)
Tags: 2019, Adolescent, Adult, Age, Aged, America, Amin R, amyotrophic lateral sclerosis, amyotrophic lateral sclerosis/ep [Epidemiology], Animals, APEC countries, Article, August 2019 List, Bai Y, Canada, Child, childhood disease/ep [Epidemiology], childhood diseases, Children, Chordata, Cohort Analysis, Cohort Studies, Commonwealth of Nations, Controlled Study, Data Base, death rate, Developed Countries, Disease Course, disease prevalence, Disease Progression, Eukaryotes, Female, Gershon A, Goldstein R, Health Care, health Insurance, Hominidae, Homo, Human, Human Diseases, Incidence, Infant, International Classification of Diseases, Katz S, Leasa D, Major Clinical Study, Male, Mammals, Man, McKim D, Middle Aged, Mortality, mortality rates, muscles, neuromuscular disease/ep [Epidemiology], Neuromuscular Diseases, Neuromuscular Disorders, Nonoyama M, North America, OECD Countries, Ontario, Palliative Care, Palliative Therapy, planning, PLoS One, Population Research, Preschool Child, Prevalence, Primates, Retrospective Studies, Retrospective Study, Rose L, School Child, sclerosis, spinal muscular atrophy/ep [Epidemiology], Spine, Survival, Tandon A, trend study, Trends, Vertebrates, Young Adult
The impact of clinical trial enrollment on specialty palliative care utilization in pediatric patients with high-grade gliomas
Depression, distress and positive mood in late-stage cancer: a longitudinal study
Tags: 2009, Acree M, Affect, Backlog, Depression/epidemiology/psychology, Depressive Disorder/epidemiology/psychology, Disease Progression, Folkman S, Humans, Journal Article, Longitudinal Studies, McElhiney M, Moran P, Neoplasms/psychology, New York City/epidemiology, Psycho-Oncology, Rabkin JG, Risk Factors, San Francisco/epidemiology, Terminally Ill/psychology
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 Scoping Review Results, Reproducibility of Results, Schaefer AM, Smeitink JA, Turnbull DM, Uziel G
Validation of the palliative performance scale in the acute tertiary care hospital setting
Tags: 2007, Activities of Daily Living, Backlog, Bernard S, Critical Illness/classification, Disease Progression, Female, Hanson L, Humans, Journal Article, Journal of Palliative Medicine, Karnofsky Performance Status, Male, Middle Aged, North Carolina, Olajide O, Palliative Care/methods, Prognosis, Proportional Hazards Models, Prospective Studies, Qaqish BF, Schwartz R, Survival Analysis, Terminally Ill/classification, Usher BM
The course of the terminal phase in patients with amyotrophic lateral sclerosis
Tags: 2001, 80 And Over, Adult, Aged, Airway Obstruction/etiology/pathology/psychology, Amyotrophic Lateral Sclerosis/complications/pathology/psychology, anxiety, Backlog, Borasio GD, Caregivers, Cough/etiology, Death, Disease Progression, Dyspnea/etiology, Fear, Female, Health Surveys, Humans, Journal Article, Journal Of Neurology, Male, Middle Aged, Neudert C, Oliver D, Palliative Care, Quality Of Life, Retrospective Studies, Terminal Care, Wasner M
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
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 Scoping Review Results, Questionnaires, Research Design, Ullrich K
Sleep disordered breathing in spinal muscular atrophy
Tags: 2004, breathing difficulties, Child, Cyclic AMP, Disease Progression, disordered breathing, Dohna-Schwake C, Female, Humans, Male, Mellies U, Muscle, Neuromuscular Disorders, non-invasive positive pressure ventilation, physical intervention, Response Element-Binding Protein, Skeletal/pa [Pathology] Muscle, SMA1, Stehling F V T
Advanced care planning discussions with adolescents and young adults with cancer
Tags: 2013, Adolescent, Advance Care Planning, Backlog, Disease Progression, Female, Humans, Journal Article, Journal of Pediatric Nursing, Legal Guardians, Male, McBride D, Neoplasm Invasiveness, Neoplasms, Parent-child Relations, Parents, Professional-family Relations, Quality Of Life, Terminal Care, Young Adult
A clinical rating scale for Batten disease Reliable and relevant for clinical trials
Tags: 2005, Adams H, Adolescent, Adult, Backlog, Child, Children W/SNI, Clinical Trials/standards, de Blieck EA, DeYoung J, Disease Progression, Dure L, Female, Humans, Journal Article, Levy Erika, Longitudinal Studies, Male, Marshall FJ, McDonough T, Messing S, Mink JW, Neurologic Examination/methods/standards, Neurology, Neuronal Ceroid-Lipofuscinoses/diagnosis/physiopathology/psychology, Neuropsychological Tests/standards, others, Personality Tests/standards, Predictive Value of Tests, Preschool, Prognosis, Rothberg PG, Severity Of Illness Index, Treatment Outcome
Leigh's syndrome
Tags: 2004, Autopsy, Backlog, Basal Ganglia/pathology, Behari M, Biopsy, Disease Progression, Fatal Outcome, Female, Gupta V, Humans, Immunohistochemistry, Indian Journal Of Pediatrics, Infant, Journal Article, Leigh Disease/diagnosis/physiopathology/therapy, Magnetic Resonance Imaging, Mannan AA, Needle, Q3 Scoping Review Results, Ralte AM, Risk Assessment, Sarkar C, Severity Of Illness Index, Sharma MC, Shrivastava P
Challenging symptoms in children with rare life-limiting conditions: findings from a prospective diary and interview study with families
Tags: 2012, Acta Paediatrica, Adams S, Adolescent, Anderson G, Backlog, Child, Disease Progression, Family Health, Female, Forbat L, Gibson F, Hain R, Humans, Interviews As Topic, Journal Article, Malcolm C, Male, Medical Records, Mucopolysaccharidoses/diagnosis/psychology/therapy, Mucopolysaccharidosis I/diagnosis/therapy, Mucopolysaccharidosis III/diagnosis/therapy, Neuronal Ceroid-Lipofuscinoses/diagnosis/psychology/therapy, Preschool, Prospective Studies, Psychological, Stress, Young Adult
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
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
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
Tags: 2006, Artificial, Backlog, Cohort Studies, Corzo D, Disease Progression, Europe/epidemiology, Female, Glycogen Storage Disease Type II/complications/epidemiology/therapy, Humans, Hwu WL, Infant, Infantile-Onset Pompe Disease Natural History Study Group, Israel/epidemiology, Journal Article, Kishnani PS, Longitudinal Studies, Male, Mandel H, Newborn, Nicolino M, North America/epidemiology, Respiration, Retrospective Studies, Survival Rate, Taiwan/epidemiology, The Journal Of Pediatrics, Yong F
Life Transitions Of Adolescents And Young Adults With Life-limiting Conditions
A systematic review was conducted to appraise and classify evidence related to the life transitions of adolescents and young adults with life-limiting conditions.
Methods:
The databases searched were MEDLINE, CINAHL, PsycINFO, CancerLit, and…
Tags: 2016, Adaptation Psychological, Adolescent, Adolescent Development, Adolescents, Adult, Brain Neoplasms, Child, Cystic Fibrosis, December 2016 List, Disease Progression, Emotions, Family, Health Status, Humans, International Journal of Palliative Nursing, Jindal-Snape, Johnston, Life Transitions, Life-limiting Conditions, Mental Health, Muscular Dystrophy Duchenne, Neurodegenerative Diseases, Pringle J, Terminally Ill, Young Adult, Young Adults
Massage therapy is associated with enhancement of the immune system's cytotoxic capacity
Tags: 1996, Adult, Affect, Backlog, Burman I, CD4 Lymphocyte Count, Cytotoxicity, Disease Progression, Field T, Fletcher MA, Goncalves A, Hashimoto M, HIV Infections/immunology/psychology/therapy, HIV Seronegativity/immunology, HIV Seropositivity/immunology/psychology/therapy, Hormones/blood/urine, Humans, Hydrocortisone/blood, Immunologic/immunology, Ironson G, Journal Article, Killer Cells, Kumar A, Kumar M, Male, Massage, Natural/immunology, Non-U.S. Gov't, Patarca R, Price A, Research Support, Scafidi F, Tetenman C, The International Journal Of Neuroscience
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
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
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
Symptoms in children/young people with progressive malignant disease: United Kingdom Children's Cancer Study Group/Paediatric Oncology Nurses Forum survey.
Tags: 2006, Adolescent, Adult, Backlog, Child, Childs M, Collins GS, Disease Progression, Female, Goldman A, Hain R, Hewitt M, Humans, Infant, Journal Article, Longitudinal Studies, Male, Neoplasms/complications/diagnosis, Pediatrics, Preschool, Prospective Studies, Questionnaires, United Kingdom Children's Cancer Study Group/Paediatric Oncology Nurses' Forum Palliative Care Working Group
Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients
Tags: 2005, Backlog, Child, De Lonlay P, Disease Progression, Diseases/blood/diagnosis/mortality, Female, Follow-up Studies, Garcia-Cazorla A, Humans, Infant, Journal Article, Lactic Acid/blood, Longitudinal Studies, Male, Mitochondrial Myopathies/blood/complications/diagnosis/mortality, Nassogne MC, Newborn, Pediatrics, Preschool, Prognosis, Rustin P, Saudubray JM, Touati G
A cohort study of children and young people with progressive neuromuscular disorders: clinical and demographic profiles and changing patterns of referral for palliative care
Tags: 2012, Adolescent, Aldridge J, Backlog, Child, Childs AM, Cohort Studies, Disease Progression, Disease Specific, Duchenne/epidemiology/mortality, Female, Fraser LK, Great Britain/epidemiology, Humans, Infant, Journal Article, Male, Manning S, McKinney PA, Miller M, Multivariate Analysis, Muscular Dystrophy, Neuromuscular Diseases/epidemiology/mortality, Palliative Care/statistics & Numerical Data, Palliative Medicine, Parslow RC, Poverty Areas, Preschool, Prevalence, Referral and Consultation/trends, Retrospective Studies, Spinal Muscular Atrophies of Childhood/epidemiology/mortality
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
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 Scoping Review Results, Retinal Diseases/etiology/pathology, Severity Of Illness Index, Vision Disorders/etiology/physiopathology, Visual Acuity, von Dobeln U, Ying L
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