Greenwood Genetic Center, APAE Salvador, APAE Salvador, Innovatox, Waters technologies do Brazil, Waters technologies do Brazil, Hospital de Clínicas de Porto Alegre (HCPA), Hospital de Clínicas de Porto Alegre (HCPA), Hospital de Clínicas de Porto Alegre (HCPA), Mayo Clinic, Hospital de Clínicas de Porto Alegre (HCPA), PerkinElmer, PerkinElmer, SA Pathology, University of Padova, University of Washington - Department of Biochemistry, University of Washington, University of Padova, University of Washington and Federal University of Rio Grande do Sul (UFRGS/PPGA)

Queensland Children's Hospital - Department of Endocrinology & Diabetes, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, Children’s Hospital at Westmead - NSW Newborn Screening Programme, SA Pathology, SA Pathology, affiliation not provided to SSRN, affiliation not provided to SSRN, Auckland District Health Board - Auckland City Hospital, Auckland District Health Board - Auckland City Hospital and affiliation not provided to SSRN