[Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity].
Fischer
Judith
J
CNG, Centre National de Génotypage, 2, rue Gaston-Crémieux CP 5721, 91057 Evry Cedex, France. fischer@cng.fr
Negre-Salvayre
Anne
A
Salvayre
Robert
R
D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; D000273:Adipose Tissue / Q000201:enzymology; D004950:Esterases / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D007057:Ichthyosis / Q000209:etiology*; D008049:Lipase / Q000172:deficiency* / Q000235:genetics; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications / Q000201:enzymology / Q000473:pathology*; D008954:Models, Biological; D009765:Obesity; D010741:Phospholipases A / Q000737:chemistry / Q000172:deficiency / Q000235:genetics; D014280:Triglycerides / Q000378:metabolism; D000217:Acyltransferases
D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; D004950:Esterases; D008049:Lipase; D010741:Phospholipases A; D014280:Triglycerides; C439972:ABHD5 protein, human; C494794:PNPLA2 protein, human; D000217:Acyltransferases