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| Title : Mutations in the palmitoyl-protein thioesterase gene (PPT\; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits - Mitchison_1998_Hum.Mol.Genet_7_291 |
| Author(s) : Mitchison HM , Hofmann SL , Becerra CH , Munroe PB , Lake BD , Crow YJ , Stephenson JB , Williams RE , Hofman IL , Taschner PE , Martin JJ , Philippart M , Andermann E , Andermann F , Mole SE , Gardiner RM , O'Rawe AM |
| Ref : Hum Mol Genet , 7 :291 , 1998 |
| Abstract : Mitchison_1998_Hum.Mol.Genet_7_291 |
| ESTHER : Mitchison_1998_Hum.Mol.Genet_7_291 |
| PubMedSearch : Mitchison_1998_Hum.Mol.Genet_7_291 |
| PubMedID: 9425237 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Histochemical detection of the enzyme deficiency in blood films in Wolman's disease - Lake_1971_J.Clin.Pathol_24_617 |
| Author(s) : Lake BD |
| Ref : Journal of Clinical Pathology , 24 :617 , 1971 |
| Abstract : Lake_1971_J.Clin.Pathol_24_617 |
| ESTHER : Lake_1971_J.Clin.Pathol_24_617 |
| PubMedSearch : Lake_1971_J.Clin.Pathol_24_617 |
| PubMedID: 5118828 |
| Title : Wolman's disease: deficiency of E600-resistant acid esterase activity with storage of lipids in lysosomes - |
| Author(s) : Lake BD , Patrick AD |
| Ref : J Pediatr , 76 :262 , 1970 |
| PubMedID: 5410174 |
| Title : Deficiency of an acid lipase in Wolman's disease - |
| Author(s) : Patrick AD , Lake BD |
| Ref : Nature , 222 :1067 , 1969 |
| PubMedID: 5787090 |