{"id":"W4415588054","doi":"10.1186/s13023-025-03980-1","title":"French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease","year":2025,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hotel Dieu Hospital","funders":"","keywords":"Enzyme replacement therapy; Glucocerebrosidase; Asymptomatic; Disease; Magnetic resonance imaging; Encephalopathy; Multidisciplinary approach; Genetic testing; Cytopenia","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.02888688,0.001177436,0.001651476,0.003050566,0.002261368,0.002494179,0.002181865,0.003657809,0.03055079],"category_scores_gemma":[0.04922095,0.0006427421,0.002523034,0.002317142,0.0008631339,0.001219898,0.002451228,0.002460955,0.006668612],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01356612,"about_ca_system_score_gemma":0.03692561,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.07210219,"about_ca_topic_score_gemma":0.05896228,"domain_scores_codex":[0.9767296,0.01547762,0.003257717,0.001116242,0.001826959,0.001591821],"domain_scores_gemma":[0.9631571,0.01061723,0.003268799,0.001924071,0.018696,0.002336746],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002976623,0.0003307939,0.009657129,0.005614266,0.000427233,0.0006103545,0.001033866,0.001582175,0.0007908939,0.0171682,0.8351645,0.124644],"study_design_scores_gemma":[0.003556659,0.0005147209,0.02805975,0.01127937,0.0002804629,0.0006032828,0.0004277228,0.0009087154,0.0006092036,0.003950304,0.9496762,0.0001337578],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"protocol","genre_gemma":"protocol","genre_scores_codex":[0.02826606,0.03112671,0.06418676,0.08461125,0.007721394,0.2912902,0.2302958,0.004265488,0.2582363],"genre_scores_gemma":[0.08606232,0.0137889,0.1189743,0.06375651,0.002237593,0.4473199,0.2173894,0.0006431572,0.04982795],"genre_candidate":"protocol","genre_consensus":"protocol","teacher_disagreement_score":0.07210219,"threshold_uncertainty_score":0.1527703,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03840639683362196,"score_gpt":0.4084529457773545,"score_spread":0.3700465489437326,"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."}}