Articles

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
medicine (4) 4
medicine, research & experimental (4) 4
care and treatment (3) 3
children (3) 3
genetics & heredity (3) 3
index medicus (3) 3
management (3) 3
challenges (2) 2
clinical-trials (2) 2
collaboration (2) 2
diagnosis (2) 2
disease (2) 2
inherited metabolic diseases (2) 2
medical screening (2) 2
metabolic disorders (2) 2
neutral amino-acids (2) 2
outcomes (2) 2
pediatric research (2) 2
pediatrics (2) 2
pku (2) 2
rare diseases (2) 2
research (2) 2
acyl-coa dehydrogenase (1) 1
acyl-coa dehydrogenase - deficiency (1) 1
acyl-coa dehydrogenase deficiencies (1) 1
adjustment (1) 1
age (1) 1
ambulatory care (1) 1
amino acids (1) 1
australia (1) 1
beliefs, opinions and attitudes (1) 1
birth weight (1) 1
blood (1) 1
burden (1) 1
canada (1) 1
caregiver health (1) 1
caregivers (1) 1
caregiving complexity (1) 1
cerebral-palsy (1) 1
chronic diseases (1) 1
chronic diseases in children (1) 1
classification (1) 1
clinical trials (1) 1
cognition (1) 1
cohort (1) 1
comparative analysis (1) 1
comparative effectiveness (1) 1
consensus (1) 1
coping (1) 1
core outcome set (1) 1
cost-effectiveness (1) 1
costs (1) 1
data bases (1) 1
definition (1) 1
dehydrogenases (1) 1
delphi (1) 1
delphi technique (1) 1
demographic aspects (1) 1
design (1) 1
diet (1) 1
dietitians (1) 1
diseases (1) 1
early treated phenylketonuria (1) 1
economic-evaluation (1) 1
endpoint determination - standards (1) 1
evaluation (1) 1
evidence generation (1) 1
evidence synthesis (1) 1
families (1) 1
fasting (1) 1
fatty acids (1) 1
ferritin (1) 1
focus groups (1) 1
follow-up (1) 1
form health survey (1) 1
framework (1) 1
genetics (1) 1
genotype & phenotype (1) 1
gestational age (1) 1
health aspects (1) 1
health care access (1) 1
health care industry (1) 1
health insurance (1) 1
health service utilization (1) 1
health services (1) 1
health services utilization (1) 1
health-care (1) 1
hemophilia (1) 1
humans (1) 1
hydroxylase (1) 1
hyperphenylalaninemia (1) 1
illnesses (1) 1
inborn-errors (1) 1
infants (1) 1
intervention (1) 1
l-carnitine supplementation (1) 1
lipid metabolism, inborn errors - diagnosis (1) 1
lipid metabolism, inborn errors - therapy (1) 1
literature reviews (1) 1
lung-diseases (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text A systematic review of the association between coping strategies and quality of life among caregivers of children with chronic illness and/or disability
by Fairfax, A and Brehaut, J and Colman, I and Sikora, L and Kazakova, A and Chakraborty, P and Potter, BK and Collaboration Canadian Inherited M and Canadian Inherited Metabolic Diseases Research Network and in collaboration with the Canadian Inherited Metabolic Diseases Research Network
BMC PEDIATRICS, ISSN 1471-2431, 07/2019, Volume 19, Issue 1, pp. 215 - 16
Background: Parents of children with chronic illness have reported decreased psychological and physical quality of life (QoL) relative to parents of children... 
MOTHERS | DEFINITION | FORM HEALTH SURVEY | Caregiver health | PARENTS | Systematic review | RELIABILITY | ADJUSTMENT | Quality of life | Caregiving complexity | FAMILIES | PEDIATRICS | Coping | CEREBRAL-PALSY | STRESS | BURDEN | Caregivers | Evaluation | Care and treatment | Coping (Psychology) | Demographic aspects | Beliefs, opinions and attitudes | Chronic diseases | Children | Pediatric research | Chronic diseases in children | Diseases
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: A survey of dietitians' current practices
by Yuskiv, Nataliya and Potter, Beth K and Stockler, Sylvia and Ueda, Keiko and Giezen, Alette and Cheng, Barbara and Langley, Erica and Ratko, Suzanne and Austin, Valerie and Chapman, Maggie and Chakraborty, Pranesh and Collet, Jean Paul and Pender, Amy and CIMDRN and Canadian Inherited Metabolic Diseases Research Network (CIMDRN) and In collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 01/2019, Volume 14, Issue 1, pp. 7 - 13
BackgroundPhenylalanine hydroxylase (PAH) deficiency is one of 31 targeted inherited metabolic diseases (IMD) for the Canadian Inherited Metabolic Diseases... 
Phenylketonuria | PAH deficiency practice guidelines | PKU | Metabolic dietitians' survey | Nutrition management | Management practices | PAH deficiency | MEDICINE, RESEARCH & EXPERIMENTAL | DIAGNOSIS | EARLY TREATED PHENYLKETONURIA | RESPONSIVENESS | CLASSIFICATION | NEUTRAL AMINO-ACIDS | CHILDREN | HYPERPHENYLALANINEMIA | RECOMMENDATIONS | GENETICS & HEREDITY | OUTCOMES | Medical nutrition therapy | Care and treatment | Usage | Pediatric research | Tyrosine | Pediatrics | Dietitians | Nutrient deficiency | Disease | Phenylalanine 4-monooxygenase | Phenylalanine | Hydroxylase | Ferritin | Amino acids | Cognition | Management | Medical screening | Patients | Blood | Nutrition research | Diet | Genetics | Health care access | Diagnosis | Children | Metabolic disorders
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases
by Tingley, Kylie and Coyle, Doug and Graham, Ian D and Sikora, Lindsey and Chakraborty, Pranesh and Wilson, Kumanan and Mitchell, John J and Stockler-Ipsiroglu, Sylvia and Potter, Beth K and Canadian Inherited Metabolic Dis R and Canadian Inherited Metabolic Diseases Research Network and in collaboration with the Canadian Inherited Metabolic Diseases Research Network
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 06/2018, Volume 13, Issue 1, pp. 104 - 19
Introduction: For many rare diseases, strong analytic study designs for evaluating the efficacy and effectiveness of interventions are challenging to implement... 
Rare diseases | Comparative effectiveness | Evidence generation | Evidence synthesis | Patient-oriented outcomes | Research methods | MEDICINE, RESEARCH & EXPERIMENTAL | REGISTRIES | DESIGN | ORPHAN DRUGS | METHODOLOGY | CLINICAL-TRIALS | GENETICS & HEREDITY | LUNG-DISEASES | FRAMEWORK | COHORT | THERAPIES | OUTCOMES | Medicine, Experimental | Medical research | Literature reviews | Studies | Intervention | Disease | Research methodology | Collaboration | Hemophilia | Clinical trials | Focus groups | Regulatory approval
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: A cohort study in Ontario, Canada
by Karaceper, Maria D and Khangura, Sara D and Wilson, Kumanan and Coyle, Doug and Brownell, Marni and Davies, Christine and Dodds, Linda and Feigenbaum, Annette and Fell, Deshayne B and Grosse, Scott D and Guttmann, Astrid and Hawken, Steven and Hayeems, Robin Z and Kronick, Jonathan B and Laberge, Anne-Marie and Little, Julian and Mhanni, Aizeddin and Mitchell, John J and Nakhla, Meranda and Potter, Murray and Prasad, Chitra and Rockman-Greenberg, Cheryl and Sparkes, Rebecca and Stockler, Sylvia and Ueda, Keiko and Vallance, Hilary and Wilson, Brenda J and Chakraborty, Pranesh and Potter, Beth K and Collaboration Canadian Inherite and Canadian Inherited Metabolic Diseases Research Network (CIMDRN) and in collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 03/2019, Volume 14, Issue 1, pp. 70 - 10
BackgroundWe describe early health services utilization for children diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency through newborn... 
Health service utilization | Newborn screening | Inherited metabolic diseases | Medium-chain acyl-CoA dehydrogenase deficiency | MEDICINE, RESEARCH & EXPERIMENTAL | POPULATION | COST-EFFECTIVENESS | AUSTRALIA | FOLLOW-UP | TANDEM MASS-SPECTROMETRY | CHALLENGES | ECONOMIC-EVALUATION | GENETICS & HEREDITY | Canada | Care and treatment | Medical care | Acyl-CoA dehydrogenase deficiencies | Diagnosis | Research | Children | Management | Health aspects | Infants (Newborn) | Health care industry | Utilization | Comparative analysis | Medical screening | Costs | Dehydrogenases | Physicians | Health services | Acyl-CoA dehydrogenase | Gestational age | Data bases | Genotype & phenotype | Illnesses | Newborn babies | Population | Age | Public health | Urine | Health insurance | Fasting | Health services utilization | Socio-economic aspects | Fatty acids | Collaboration | Birth weight | Mutation | Metabolic disorders | Ambulatory care
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: Study protocol for systematic reviews and Delphi surveys
by Potter, Beth K and Hutton, Brian and Clifford, Tammy J and Pallone, Nicole and Smith, Maureen and Stockler, Sylvia and Chakraborty, Pranesh and Barbeau, Pauline and Garritty, Chantelle M and Pugliese, Michael and Rahman, Alvi and Skidmore, Becky and Tessier, Laure and Tingley, Kylie and Coyle, Doug and Greenberg, Cheryl R and Korngut, Lawrence and MacKenzie, Alex and Mitchell, John J and Nicholls, Stuart and Offringa, Martin and Schulze, Andreas and Taljaard, Monica and Canadian Inherited Metabolic Dis R and Canadian Inherited Metabolic Diseases Research Network and In collaboration with the Canadian Inherited Metabolic Diseases Research Network
Trials, ISSN 1745-6215, 12/2017, Volume 18, Issue 1, pp. 603 - 10
Background: Inherited metabolic diseases (IMD) are a large group of rare single-gene disorders that are typically diagnosed early in life. There are important... 
MCAD deficiency | PKU | Inherited metabolic diseases | Core outcome set | Delphi | Registry-based randomized trials | MEDICINE, RESEARCH & EXPERIMENTAL | MANAGEMENT | RARE DISEASES | NEUTRAL AMINO-ACIDS | CHALLENGES | INBORN-ERRORS | L-CARNITINE SUPPLEMENTATION | METABOLISM | CLINICAL-TRIALS | TRIPLE AIM | HEALTH-CARE | Endpoint Determination - standards | Phenylketonurias - diagnosis | Humans | Lipid Metabolism, Inborn Errors - diagnosis | Treatment Outcome | Consensus | Randomized Controlled Trials as Topic - standards | Stakeholder Participation | Phenylketonurias - therapy | Lipid Metabolism, Inborn Errors - therapy | Delphi Technique | Acyl-CoA Dehydrogenase - deficiency | Research Design - standards
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.