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| Title : Incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory infection - Thaneefa_2022_Clin.Chim.Acta__ |
| Author(s) : Thowfeek Zeenath Thaneefa M , Amarakoon G , Mendis D , Jasinge E , Hooper AJ , Burnett JR |
| Ref : Clinica Chimica Acta , : , 2022 |
| Abstract : Thaneefa_2022_Clin.Chim.Acta__ |
| ESTHER : Thaneefa_2022_Clin.Chim.Acta__ |
| PubMedSearch : Thaneefa_2022_Clin.Chim.Acta__ |
| PubMedID: 35085586 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis - |
| Author(s) : Vidanapathirana DM , Rodrigo T , Waidyanatha S , Jasinge E , Hooper AJ , Burnett JR |
| Ref : Glob Pediatr Health , 4 :2333794X17715839 , 2017 |
| PubMedID: 28695157 |
| Gene_locus related to this paper: human-LPL |
| Title : Extreme diabetic lipaemia associated with a novel lipoprotein lipase gene mutation - McLean_2009_Clin.Chim.Acta_406_167 |
| Author(s) : McLean AG , Petersons CJ , Hooper AJ , Burnett JR , Burt MG , Doogue MP |
| Ref : Clinica Chimica Acta , 406 :167 , 2009 |
| Abstract : McLean_2009_Clin.Chim.Acta_406_167 |
| ESTHER : McLean_2009_Clin.Chim.Acta_406_167 |
| PubMedSearch : McLean_2009_Clin.Chim.Acta_406_167 |
| PubMedID: 19447100 |
| Title : Alipogene tiparvovec, an adeno-associated virus encoding the Ser(447)X variant of the human lipoprotein lipase gene for the treatment of patients with lipoprotein lipase deficiency - Burnett_2009_Curr.Opin.Mol.Ther_11_681 |
| Author(s) : Burnett JR , Hooper AJ |
| Ref : Curr Opin Mol Ther , 11 :681 , 2009 |
| Abstract : Burnett_2009_Curr.Opin.Mol.Ther_11_681 |
| ESTHER : Burnett_2009_Curr.Opin.Mol.Ther_11_681 |
| PubMedSearch : Burnett_2009_Curr.Opin.Mol.Ther_11_681 |
| PubMedID: 20072945 |
| Title : Familial lipoprotein lipase deficiency caused by known (G188E) and novel (W394X) LPL gene mutations - Hooper_2008_Ann.Clin.Biochem_45_102 |
| Author(s) : Hooper AJ , Crawford GM , Brisbane JM , Robertson K , Watts GF , van Bockxmeer FM , Burnett JR |
| Ref : Annals of Clinical Biochemistry , 45 :102 , 2008 |
| Abstract : Hooper_2008_Ann.Clin.Biochem_45_102 |
| ESTHER : Hooper_2008_Ann.Clin.Biochem_45_102 |
| PubMedSearch : Hooper_2008_Ann.Clin.Biochem_45_102 |
| PubMedID: 18275685 |
| Title : A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease - Hooper_2008_Clin.Chim.Acta_398_152 |
| Author(s) : Hooper AJ , Tran HA , Formby MR , Burnett JR |
| Ref : Clinica Chimica Acta , 398 :152 , 2008 |
| Abstract : Hooper_2008_Clin.Chim.Acta_398_152 |
| ESTHER : Hooper_2008_Clin.Chim.Acta_398_152 |
| PubMedSearch : Hooper_2008_Clin.Chim.Acta_398_152 |
| PubMedID: 18775687 |
| Gene_locus related to this paper: human-LIPA |