ANNEXES DU RAPPORT Pertinence d'élargir le ... - INESSS

#10 ("trifunctional protein deficiency" OR ("protein deficiency" AND trifunctional)).mp.
#11 (cystathionine beta synthase OR homocystinuria OR cbs deficien* OR cystathioninemi*
OR homocystinuri* OR hypermethioninaemi* OR hypermethioninemi* OR
((cystathionine AND (synthase* OR synthetase*)) AND (deficien* OR enzyme
defect*))).mp.
#12 (((oxobutanoate OR oxoisovalerate) AND dehydrogenase AND lipoamide) OR maple
syrup urine disease OR msud OR (maple AND syrup AND (urine OR disease*)) OR
((branch* OR brand*) AND chain AND (keto aciduri* OR ketoaciduri*)) OR ((keto acid
OR ketoacid) AND decarboxyla* AND (deficien* OR enzyme defect*))).mp.
#13 (argininosuccinate synthase OR citrullinemia OR citrullinaemi* OR citrullinemi* OR
citrullinuri* OR ass deficien* OR ((argininosuccin* OR arginosuccin* OR ((arginino OR
argino) AND succin*)) AND (synthase* OR synthetase*) AND (deficien* OR enzyme
defect*))).mp.
#14 (((citrullinaemi* OR citrullinemi* OR citrullinuri*) AND (type ii OR type 2 OR type II)) OR
((neonatal-onset OR (neonatal AND (onset OR intrahepatic)) OR cholestasis) AND citrin
AND (deficien* OR enzyme defect*)) OR (citrin AND (deficien* OR enzyme
defect*))).mp.
#15 (argininosuccinic aciduria OR argininosuccinicaciduri* OR asl deficien* OR ((asal OR
argininosuccinase* OR arginosuccinase*) AND (deficien* OR enzyme defect*))) OR
(argininosuccin* OR arginosuccin* OR ((arginino OR argino) AND succin*)) AND
(aciduri* OR acidaemi* OR acidemi* OR (lyase* AND (deficien* OR enzyme
defect*))).mp.
#16 (((glutaryl-coa dehydrogenase AND (oxidoreductases AND (deficien* OR enzyme
defect*))) OR glutaricacidaemi* OR glutaricacidemi* OR glutaricaciduri* OR (glutaric
AND (acidaemi* OR acidemi* OR aciduri*))) OR (multiple AND (acyl-coa
dehydrogenase* OR ((acyl co a OR acylco* OR acyl coa OR acyl coenzyme) AND
dehydrogena*) AND (deficien* OR enzyme defect*)) OR (((glutaryl* AND
dehydrogena*) OR gcdh OR mad) AND (deficien* OR enzyme defect*)) OR ((ga1 OR gai
OR ga 1 OR ga i OR gaI OR ga I) AND glutaryl* AND dehydrogena*))).mp.
#17 (hyperargininemi* OR argininaemi* OR argininemi* OR hyperargininaemi* OR
((arginase OR arg1) AND (deficien* OR enzyme defect*))).mp.
#18 ((methylmalonic OR methylmalonyl* OR (methyl AND (malonic OR malonyl*))) AND
(acidaemi* OR acidemi* OR aciduri* OR ((mutase* OR isomerase*) AND (deficien* OR
enzyme defect*)))).mp.
#19 (((ketotic OR (ketoacid* AND leukopeni*)) AND (glycin* OR hyperglycin*)) OR
propionicacidaemi* OR propionicacidemi* OR propionicaciduri* OR pa deficien* OR
((propionic OR propionyl*) AND (acidaemi* OR acidemi* OR aciduri* OR (carboxyla*
AND (deficien* OR enzyme defect*))))).mp.
#20 (mcc deficien* OR methylcrotonylglycinuri* OR ((methylcrotonoyl* OR methylcrotonyl*
OR (methyl AND (crotonoyl* OR crotonyl*))) AND ((carboxyla* AND (deficien* OR
enzyme defect*)) OR glycinuri*))).mp.
#21 (((hhh AND syndrome* AND ornithine) OR "hhh syndrome" OR (hyperornithin* AND
hyperammon* AND homocitrullinuri*)) OR (("ornithine transporter" OR "ornithine
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