Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning

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Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning is …
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scholarly articleQ13442814

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P6179Dimensions Publication ID1014848255
P356DOI10.1186/S13023-014-0177-6
P932PMC publication ID4254263
P698PubMed publication ID25425461
P5875ResearchGate publication ID268876231

P50authorMarina A. J. TijssenQ67409418
Annet BoschQ77393694
Maria Fiorella ContarinoQ39744201
P2093author name stringAnouk Kuiper
Bart Post
Deborah A Sival
Hendriekje Eggink
Kathryn J Peall
Tom J de Koning
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The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria.Q51999596
The PedsQL in type 1 and type 2 diabetes: reliability and validity of the Pediatric Quality of Life Inventory Generic Core Scales and type 1 Diabetes Module.Q53395682
Prevalence and characteristics of children with cerebral palsy in EuropeQ54121408
Measuring quality of life in children referred for psychiatric problems: psychometric properties of the PedsQL 4.0 generic core scalesQ79930619
Health-related quality of life measurement in pediatric clinical practice: an appraisal and precept for future research and applicationQ24811333
Movement disorders and inborn errors of metabolism in adults: a diagnostic approachQ31159730
Living with classical galactosemia: health-related quality of life consequences.Q34317984
Can parents rate their child's health-related quality of life? Results of a systematic reviewQ34474977
Developmental delay: when to suspect and how to investigate for an inborn error of metabolismQ35281339
Movement disorders in children: definitions, classifications, and grading systemsQ35292279
Assessment of health-related quality of life in children: a review of conceptual, methodological, and regulatory issuesQ35627969
Impaired health-related quality of life in children and adolescents with chronic conditions: a comparative analysis of 10 disease clusters and 33 disease categories/severities utilizing the PedsQL 4.0 Generic Core ScalesQ35971493
The impact of Hunter syndrome (mucopolysaccharidosis type II) on health-related quality of lifeQ37042294
Inborn errors of metabolism and motor disturbances in childrenQ37592037
Movement disorders in neuro-metabolic diseasesQ37656654
The PedsQL Multidimensional Fatigue Scale in pediatric rheumatology: reliability and validityQ39701681
The PedsQL in pediatric cerebral palsy: reliability, validity, and sensitivity of the Generic Core Scales and Cerebral Palsy Module.Q39755296
Recommendations for evaluating the validity of quality of life claims for labeling and promotionQ40328237
Health-related quality of life in children and adolescents with phenylketonuria: unimpaired HRQoL in patients but feared school failure in parentsQ45367911
Weak central coherence and its relations to theory of mind and anxiety in autism.Q50306518
The psychometric properties of the Vineland Adaptive Behavior Scales in children and adolescents with mental retardationQ50306521
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P407language of work or nameEnglishQ1860
P921main subjectmovement disordersQ2608695
quality of lifeQ13100823
P304page(s)177
P577publication date2014-11-26
P1433published inOrphanet Journal of Rare DiseasesQ15756117
P1476titleRare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning
P478volume9

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Q92716236Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders
Q37743673Communication Impairments in Children with Inborn Errors of Metabolism: A Preliminary Study
Q52325646Crossing barriers: a multidisciplinary approach to children and adults with young-onset movement disorders.
Q36947185Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia
Q59806220Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review
Q92083277Quality of Life in Chronic Ketogenic Diet Treatment: The GLUT1DS Population Perspective
Q55007943The effects of disease-related symptoms on daily function in Wolfram Syndrome.
Q42317941The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study

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