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| Title : Hepatic lipase deficiency in a Middle-Eastern-Arabic male. - Al Riyami_2010_BMJ.Case.Rep__ |
| Author(s) : Al Riyami N , Al-Ali AM , Al-Sarraf AJ , Hill J , Sachs-Barrable K , Hegele R , Wasan KM , Frohlich J |
| Ref : BMJ Case Rep , : , 2010 |
| Abstract : Al Riyami_2010_BMJ.Case.Rep__ |
| ESTHER : Al Riyami_2010_BMJ.Case.Rep__ |
| PubMedSearch : Al Riyami_2010_BMJ.Case.Rep__ |
| PubMedID: 22798447 |
| Gene_locus related to this paper: human-LIPC |
| Title : Stability of lipids on peritoneal dialysis in a patient with familial LCAT deficiency - |
| Author(s) : Weber CL , Frohlich J , Wang J , Hegele RA , Chan-Yan C |
| Ref : Nephrol Dial Transplant , 22 :2084 , 2007 |
| PubMedID: 17452402 |
| Title : Patients with apoE3 deficiency (E2\/2, E3\/2, and E4\/2) who manifest with hyperlipidemia have increased frequency of an Asn 291-->\;Ser mutation in the human LPL gene - Zhang_1995_Arterioscler.Thromb.Vasc.Biol_15_1695 |
| Author(s) : Zhang H , Reymer PW , Liu MS , Forsythe IJ , Groenemeyer BE , Frohlich J , Brunzell JD , Kastelein JJ , Hayden MR , Ma Y |
| Ref : Arterioscler Thromb Vasc Biol , 15 :1695 , 1995 |
| Abstract : Zhang_1995_Arterioscler.Thromb.Vasc.Biol_15_1695 |
| ESTHER : Zhang_1995_Arterioscler.Thromb.Vasc.Biol_15_1695 |
| PubMedSearch : Zhang_1995_Arterioscler.Thromb.Vasc.Biol_15_1695 |
| PubMedID: 7583546 |
| Title : High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform - Ma_1994_J.Lipid.Res_35_1066 |
| Author(s) : Ma Y , Ooi TC , Liu MS , Zhang H , McPherson R , Edwards AL , Forsythe IJ , Frohlich J , Brunzell JD , Hayden MR |
| Ref : J Lipid Res , 35 :1066 , 1994 |
| Abstract : Ma_1994_J.Lipid.Res_35_1066 |
| ESTHER : Ma_1994_J.Lipid.Res_35_1066 |
| PubMedSearch : Ma_1994_J.Lipid.Res_35_1066 |
| PubMedID: 8077845 |
| Title : Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin: cholesterol acyltransferase deficiency and fish-eye disease - Rader_1994_J.Clin.Invest_93_321 |
| Author(s) : Rader DJ , Ikewaki K , Duverger N , Schmidt H , Pritchard H , Frohlich J , Clerc M , Dumon MF , Fairwell T , Zech L , Santamarina-Fojo S , Brewer HB, Jr. , et al. |
| Ref : J Clinical Investigation , 93 :321 , 1994 |
| Abstract : Rader_1994_J.Clin.Invest_93_321 |
| ESTHER : Rader_1994_J.Clin.Invest_93_321 |
| PubMedSearch : Rader_1994_J.Clin.Invest_93_321 |
| PubMedID: 8282802 |
| Title : Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease - Funke_1993_J.Clin.Invest_91_677 |
| Author(s) : Funke H , von Eckardstein A , Pritchard PH , Hornby AE , Wiebusch H , Motti C , Hayden MR , Dachet C , Jacotot B , Gerdes U , Faergeman O , Albers JJ , Colleoni N , Catapano A , Frohlich J , Assmann G |
| Ref : J Clinical Investigation , 91 :677 , 1993 |
| Abstract : Funke_1993_J.Clin.Invest_91_677 |
| ESTHER : Funke_1993_J.Clin.Invest_91_677 |
| PubMedSearch : Funke_1993_J.Clin.Invest_91_677 |
| PubMedID: 8432868 |
| Gene_locus related to this paper: human-LCAT |
| Title : Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a Ser172-->Cys mutation in the lipoprotein lipase gene - Ma_1993_J.Clin.Invest_91_1953 |
| Author(s) : Ma Y , Liu MS , Ginzinger D , Frohlich J , Brunzell JD , Hayden MR |
| Ref : J Clinical Investigation , 91 :1953 , 1993 |
| Abstract : Ma_1993_J.Clin.Invest_91_1953 |
| ESTHER : Ma_1993_J.Clin.Invest_91_1953 |
| PubMedSearch : Ma_1993_J.Clin.Invest_91_1953 |
| PubMedID: 8486765 |
| Gene_locus related to this paper: human-LPL |
| Title : Hypoalphalipoproteinemia resembling fish eye disease - Frohlich_1987_Acta.Med.Scand_221_291 |
| Author(s) : Frohlich J , Hoag G , McLeod R , Hayden M , Godin DV , Wadsworth LD , Critchley JD , Pritchard PH |
| Ref : Acta Med Scand , 221 :291 , 1987 |
| Abstract : Frohlich_1987_Acta.Med.Scand_221_291 |
| ESTHER : Frohlich_1987_Acta.Med.Scand_221_291 |
| PubMedSearch : Frohlich_1987_Acta.Med.Scand_221_291 |
| PubMedID: 3591467 |
| Title : Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency - Frohlich_1982_Am.J.Hum.Genet_34_65 |
| Author(s) : Frohlich J , Hon K , McLeod R |
| Ref : American Journal of Human Genetics , 34 :65 , 1982 |
| Abstract : Frohlich_1982_Am.J.Hum.Genet_34_65 |
| ESTHER : Frohlich_1982_Am.J.Hum.Genet_34_65 |
| PubMedSearch : Frohlich_1982_Am.J.Hum.Genet_34_65 |
| PubMedID: 6805319 |
| Title : Lecithin: cholesterol acyl transferase (LCAT) - Frohlich_1982_Clin.Biochem_15_269 |
| Author(s) : Frohlich J , McLeod R , Hon K |
| Ref : Clinical Biochemistry , 15 :269 , 1982 |
| Abstract : Frohlich_1982_Clin.Biochem_15_269 |
| ESTHER : Frohlich_1982_Clin.Biochem_15_269 |
| PubMedSearch : Frohlich_1982_Clin.Biochem_15_269 |
| PubMedID: 6762928 |
| Gene_locus related to this paper: human-LCAT |