The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ)

[1] Ondruskova N(2021)Congenital disorders of glycosylation: Still “hot” in 2020 Biochim Biophys Acta - Gen Subj 1865 541-553

[2] Cechova A(2018)The challenge of CDG diagnosis Mol Genet Metab 41 179-17

[3] Hansikova H(2018)Recognizable phenotypes in CDG J Inherit Metab Dis 14 13-124

[4] Honzik T(1980)Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome? Pediatr Res 39 90-64

[5] Jaeken J(2018)The Prevalence of PMM2-CDG in Estonia based on population carrier frequencies and diagnosed patients JIMD Rep 43 e-48-355

[6] Francisco R(2020)CDG and immune response: from bedside to bench and back JIMD 18 55-109

[7] Marques-da-Silva D(2016)The use of social media in recruitment for medical research studies: a scoping review J Med Internet Res 15 2092-2273

[8] Brasil S(2013)Using information technology and social networking for recruitment of research participants: experience from an exploratory study of pediatric Klinefelter syndrome J Med Internet Res 44 175-64

[9] Pascoal C(2019)An electronic questionnaire for liver assessment in congenital disorders of glycosylation (LeQCDG ): a patient-centered study JIMD Rep 9 349-656

[10] dos Reis FV(2020)New insights into immunological involvement in congenital disorders of glycosylation (CDG) from a people-centric approach J Clin Med 11 682-1484.e2

[1] Ondruskova N(2021)Congenital disorders of glycosylation: Still “hot” in 2020 Biochim Biophys Acta - Gen Subj 1865 541-553

[2] Cechova A(2018)The challenge of CDG diagnosis Mol Genet Metab 41 179-17

[3] Hansikova H(2018)Recognizable phenotypes in CDG J Inherit Metab Dis 14 13-124

[4] Honzik T(1980)Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome? Pediatr Res 39 90-64

[5] Jaeken J(2018)The Prevalence of PMM2-CDG in Estonia based on population carrier frequencies and diagnosed patients JIMD Rep 43 e-48-355

[6] Francisco R(2020)CDG and immune response: from bedside to bench and back JIMD 18 55-109

[7] Marques-da-Silva D(2016)The use of social media in recruitment for medical research studies: a scoping review J Med Internet Res 15 2092-2273

[8] Brasil S(2013)Using information technology and social networking for recruitment of research participants: experience from an exploratory study of pediatric Klinefelter syndrome J Med Internet Res 44 175-64

[9] Pascoal C(2019)An electronic questionnaire for liver assessment in congenital disorders of glycosylation (LeQCDG ): a patient-centered study JIMD Rep 9 349-656

[10] dos Reis FV(2020)New insights into immunological involvement in congenital disorders of glycosylation (CDG) from a people-centric approach J Clin Med 11 682-1484.e2