{"id":"W7115033510","doi":"","title":"POLR3-related leukodystrophy: a qualitative study on parents’ experiences with the health care system and burden of disease in parents and siblings","year":2024,"lang":"en","type":"dissertation","venue":"eScholarship@McGill (McGill)","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Canadian Institutes of Health Research; McGill University Health Centre; Hope Foundation; McGill University; Children's Hospital Foundation; Fonds de Recherche du Québec - Santé; Hunter's Hope Foundation","keywords":"Qualitative research; Health care; Disease; Burden of disease; Public health; Disease burden","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.007766861,0.0004420084,0.000805618,0.0008488258,0.005262784,0.002580383,0.00102035,0.00117691,0.003156969],"category_scores_gemma":[0.01221804,0.0006426169,0.0004357437,0.000985219,0.003846373,0.003374116,0.003631137,0.002533305,0.0002207313],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004219403,"about_ca_system_score_gemma":0.003317223,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02061322,"about_ca_topic_score_gemma":0.02728943,"domain_scores_codex":[0.9951628,0.003551863,0.0001618244,0.0002589051,0.0002829461,0.0005815867],"domain_scores_gemma":[0.9918366,0.005108783,0.0009330169,0.0001742132,0.0007510491,0.001196314],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"qualitative","study_design_gemma":"qualitative","study_design_scores_codex":[0.00002498537,0.00003416392,0.01262915,0.0000952347,0.000009769196,0.0009629055,0.9830006,0.00001670969,0.0002051056,0.0003028293,0.0003987802,0.002319692],"study_design_scores_gemma":[0.000002110529,0.00003357612,0.004272604,0.00007584246,0.000003475181,0.0002006152,0.9937364,0.00001913491,0.00004164552,0.00005924997,0.001547281,0.000008067865],"study_design_candidate":"qualitative","study_design_consensus":"qualitative","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961224,0.0008385723,0.0002229501,0.001428413,0.00003374914,0.00003949311,0.00008807799,0.000004066336,0.001222229],"genre_scores_gemma":[0.9975663,0.0008403229,0.0001633251,0.0005525118,0.000009352477,0.00006427591,0.00004497292,0.000007111095,0.000751654],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02061322,"threshold_uncertainty_score":0.04107559,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02353017629538515,"score_gpt":0.3366518387817852,"score_spread":0.3131216624864001,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}