| Title : Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter - Rodriguez_2021_Neuromuscul.Disord_31_21 |
| Author(s) : Rodriguez Cruz PM , Hughes I , Manzur A , Munot P , Ramdas S , Wright R , Breen C , Pitt M , Pagnamenta AT , Taylor JC , Palace J , Beeson D |
| Ref : Neuromuscular Disorders , 31 :21 , 2021 |
| Abstract : |
| PubMedSearch : Rodriguez_2021_Neuromuscul.Disord_31_21 |
| PubMedID: 33250374 |
| Title : Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency - Valayannopoulos_2014_J.Hepatol_61_1135 |
| Author(s) : Valayannopoulos V , Malinova V , Honzik T , Balwani M , Breen C , Deegan PB , Enns GM , Jones SA , Kane JP , Stock EO , Tripuraneni R , Eckert S , Schneider E , Hamilton G , Middleton MS , Sirlin C , Kessler B , Bourdon C , Boyadjiev SA , Sharma R , Twelves C , Whitley CB , Quinn AG |
| Ref : Journal of Hepatology , 61 :1135 , 2014 |
| Abstract : |
| PubMedSearch : Valayannopoulos_2014_J.Hepatol_61_1135 |
| PubMedID: 24993530 |
| Gene_locus related to this paper: human-LIPA |
| Title : Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease - Balwani_2013_Hepatology_58_950 |
| Author(s) : Balwani M , Breen C , Enns GM , Deegan PB , Honzik T , Jones S , Kane JP , Malinova V , Sharma R , Stock EO , Valayannopoulos V , Wraith JE , Burg J , Eckert S , Schneider E , Quinn AG |
| Ref : Hepatology , 58 :950 , 2013 |
| Abstract : |
| PubMedSearch : Balwani_2013_Hepatology_58_950 |
| PubMedID: 23348766 |
| Title : Analysis and manipulation of amphotericin biosynthetic genes by means of modified phage KC515 transduction techniques - Carmody_2004_Gene_343_107 |
| Author(s) : Carmody M , Byrne B , Murphy B , Breen C , Lynch S , Flood E , Finnan S , Caffrey P |
| Ref : Gene , 343 :107 , 2004 |
| Abstract : |
| PubMedSearch : Carmody_2004_Gene_343_107 |
| PubMedID: 15563836 |
| Gene_locus related to this paper: 9acto-q5qeu5 |