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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

• Authors : Kylie Tingley; Monica Lamoureux; Michael Pugliese

Subjects: Inherited metabolic diseases; Observational research; Registry science

• Source: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)

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The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network.

• Authors : Merkel PA; Manion M ...

Subjects: Cooperative Behavior* ; Patient Advocacy* ; Rare Diseases*

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2016 May 18; Vol. 11 (1), pp. 66. Date of Electronic Publication: 2016 May 18.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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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

• Authors : Ashley Wilson; Erica Langley; Mariya Kozenko ...

Subjects: medicine.medical_specialty; Canada; Observational research

• Source: Orphanet Journal of Rare DiseasesPaediatrics PublicationsOrphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)

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Sources of variation in estimates of Duchenne and Becker muscular dystrophy prevalence in the United States

• Authors : Nedra Whitehead; Stephen W. Erickson; Bo Cai

Subjects: Epidemiology; Public health surveillance; Epidemiological monitoring

• Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)

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The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network

• Authors : Peter A. Merkel; David Robertson; Hyder A. Jinnah

Subjects: Research design; Pharmacology toxicology; Patient engagement

• Source: Orphanet Journal of Rare Diseases

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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.

• Authors : Tingley, Kylie; Lamoureux, Monica; Pugliese, Michael

Subjects: GENETIC disorders; METABOLIC disorders; ACQUISITION of data

• Source: Orphanet Journal of Rare Diseases; 4/10/2020, Vol. 15 Issue 1, p1-12, 12p

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National rare diseases registry in Spain: pilot study of the Spanish Rare Diseases Registries Research Network (SpainRDR)

• Authors : Alonso, Verónica¹ (AUTHOR); Abaitua, Ignacio¹ (AUTHOR); Zurriaga, Óscar² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 2014, Vol. 9 Issue 1, p1-2. 2p. 1 Graph, 1 Map.

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Diagnostic delays in vasculitis and factors associated with time to diagnosis

• Authors : Antoine G. Sreih; Keri Cronin; Dianne G. Shaw

Subjects: Vasculitis; Diagnosis; Patient-reported data

• Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)

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Genotype characterization and delayed loss of ambulation by glucocorticoids in a large cohort of patients with Duchenne muscular dystrophy

• Authors : Shu Zhang; Dongdong Qin; Liwen Wu

Subjects: Duchenne muscular dystrophy; Genotype; Phenotype

• Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)

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Patient involvement in medical research: what patients and physicians learn from each other

• Authors : Kalen Young; Dana Kaminstein; Ana Olivos

Subjects: Vasculitis; Patient engagement; PCORnet

• Source: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)

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