| 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 : |
| 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 : Lipoprotein lipase deficiency presenting with neonatal perianal abscesses - Akesson_2016_BMJ.Case.Rep_2016_ |
| Author(s) : Akesson LS , Burnett JR , Mehta DK , Martin AC |
| Ref : BMJ Case Rep , 2016 : , 2016 |
| Abstract : |
| PubMedSearch : Akesson_2016_BMJ.Case.Rep_2016_ |
| PubMedID: 26825936 |
| Title : High-density lipoprotein subpopulation profiles in lipoprotein lipase and hepatic lipase deficiency - Tani_2016_Atherosclerosis_253_7 |
| Author(s) : Tani M , Horvath KV , Lamarche B , Couture P , Burnett JR , Schaefer EJ , Asztalos BF |
| Ref : Atherosclerosis , 253 :7 , 2016 |
| Abstract : |
| PubMedSearch : Tani_2016_Atherosclerosis_253_7 |
| PubMedID: 27573733 |
| Title : Clinical features and genetic analysis of three patients with severe hypertriglyceridaemia - Hooper_2014_Ann.Clin.Biochem_51_485 |
| Author(s) : Hooper AJ , Kurtkoti J , Hamilton-Craig I , Burnett JR |
| Ref : Annals of Clinical Biochemistry , 51 :485 , 2014 |
| Abstract : |
| PubMedSearch : Hooper_2014_Ann.Clin.Biochem_51_485 |
| PubMedID: 24591733 |
| 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 : |
| 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 : |
| 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 : |
| PubMedSearch : Hooper_2008_Ann.Clin.Biochem_45_102 |
| PubMedID: 18275685 |
| Title : Genome sequence of the fish pathogen Renibacterium salmoninarum suggests reductive evolution away from an environmental Arthrobacter ancestor - Wiens_2008_J.Bacteriol_190_6970 |
| Author(s) : Wiens GD , Rockey DD , Wu Z , Chang J , Levy R , Crane S , Chen DS , Capri GR , Burnett JR , Sudheesh PS , Schipma MJ , Burd H , Bhattacharyya A , Rhodes LD , Kaul R , Strom MS |
| Ref : Journal of Bacteriology , 190 :6970 , 2008 |
| Abstract : |
| PubMedSearch : Wiens_2008_J.Bacteriol_190_6970 |
| PubMedID: 18723615 |
| Gene_locus related to this paper: rensm-a9wkt8 , rensm-a9wlc2 , rensm-a9wlt1 , rensm-a9wml4 , rensm-a9wml5 , rensm-a9wne6 , rensm-a9wnw6 , rensm-a9wp39 , rensm-a9wpl6 , rensm-a9wr45 , rensm-a9wrg0 , rensm-a9ws98 , rensm-a9wup0 , rensm-a9wup5 , rensm-a9wkp8 , rensm-a9wkp3 , rensm-a9wn22 , rensm-a9wt82 |
| 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 : |
| PubMedSearch : Hooper_2008_Clin.Chim.Acta_398_152 |
| PubMedID: 18775687 |
| Gene_locus related to this paper: human-LIPA |