Detalhe da pesquisa
1.
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
BMC Pediatr
; 24(1): 37, 2024 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38216926
2.
Patient Engagement in a Multi-Stakeholder Workshop to Plan the Collection of Patient-Oriented Outcomes for Children with Inherited Metabolic Diseases.
Healthc Q
; 24(SP): 81-85, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35467516
3.
Developments in evidence creation for treatments of inborn errors of metabolism.
J Inherit Metab Dis
; 44(1): 88-98, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32944978
4.
Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians.
Can J Neurol Sci
; 46(6): 717-726, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31387656
5.
Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research?
Genet Med
; 18(2): 117-23, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25856667
6.
Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.
J Inherit Metab Dis
; 39(1): 139-47, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26209272
7.
Reimbursement-Based Economics--What Is It and How Can We Use It to Inform Drug Policy Reform?
Headache
; 55 Suppl 4: 236-47, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26178290
8.
Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.
BMC Pediatr
; 15: 7, 2015 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-25886474
9.
Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study.
BMJ Open
; 12(2): e055664, 2022 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35193919
10.
Stakeholder perspectives on clinical research related to therapies for rare diseases: therapeutic misconception and the value of research.
Orphanet J Rare Dis
; 16(1): 26, 2021 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33436030
11.
Patient and family engagement in the development of core outcome sets for two rare chronic diseases in children.
Res Involv Engagem
; 7(1): 66, 2021 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34521478
12.
Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.
Trials
; 22(1): 816, 2021 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34789302
13.
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.
Pediatrics
; 148(2)2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34266901
14.
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
Orphanet J Rare Dis
; 15(1): 89, 2020 04 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32276663
15.
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.
Orphanet J Rare Dis
; 15(1): 12, 2020 01 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31937333
16.
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.
Orphanet J Rare Dis
; 13(1): 104, 2018 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29954425
17.
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.
Trials
; 18(1): 603, 2017 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-29258568
18.
Correction to: Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.
Trials
; 22(1): 893, 2021 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34886877
19.
Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.
Orphanet J Rare Dis
; 11(1): 168, 2016 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27927250
20.
Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada.
JIMD Rep
; 21: 15-22, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25716610