[Niemann-Pick diseases in adults].
Sedel
F
F
Fédération des maladies du système nerveux et centre de référence "maladies lysosomales", groupe hospitalier Pitié-Salpêtrière, boulevard de l'Hôpital, 75013 Paris, France. frederic.sedel@psl.ap-hop-paris.fr
D017485:1-Deoxynojirimycin / Q000031:analogs & derivatives / Q000627:therapeutic use; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics; D004791:Enzyme Inhibitors / Q000627:therapeutic use; D006023:Glycoproteins / Q000235:genetics; D065089:Glycoside Hydrolase Inhibitors; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins / Q000235:genetics; D008875:Middle Aged; D000077296:Niemann-Pick C1 Protein; D052537:Niemann-Pick Disease, Type B / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D052556:Niemann-Pick Disease, Type C / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D013108:Sphingomyelin Phosphodiesterase / Q000627:therapeutic use; D033921:Vesicular Transport Proteins
D002352:Carrier Proteins; D004791:Enzyme Inhibitors; D006023:Glycoproteins; D065089:Glycoside Hydrolase Inhibitors; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; C104585:NPC2 protein, human; D000077296:Niemann-Pick C1 Protein; D033921:Vesicular Transport Proteins; D017485:1-Deoxynojirimycin; C059896:miglustat; D013108:Sphingomyelin Phosphodiesterase