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Title : Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease - Potter_2021_Orphanet.J.Rare.Dis_16_235 |
Author(s) : Potter JE , Petts G , Ghosh A , White FJ , Kinsella JL , Hughes S , Roberts J , Hodgkinson A , Brammeier K , Church H , Merrigan C , Hughes J , Evans P , Campbell H , Bonney D , Newman WG , Bigger BW , Broomfield A , Jones SA , Wynn RF |
Ref : Orphanet J Rare Dis , 16 :235 , 2021 |
Abstract : Potter_2021_Orphanet.J.Rare.Dis_16_235 |
ESTHER : Potter_2021_Orphanet.J.Rare.Dis_16_235 |
PubMedSearch : Potter_2021_Orphanet.J.Rare.Dis_16_235 |
PubMedID: 34020687 |
Gene_locus related to this paper: human-LIPA |
Title : Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study - Jones_2017_Orphanet.J.Rare.Dis_12_25 |
Author(s) : Jones SA , Rojas-Caro S , Quinn AG , Friedman M , Marulkar S , Ezgu F , Zaki O , Gargus JJ , Hughes J , Plantaz D , Vara R , Eckert S , Arnoux JB , Brassier A , Le Quan Sang KH , Valayannopoulos V |
Ref : Orphanet J Rare Dis , 12 :25 , 2017 |
Abstract : Jones_2017_Orphanet.J.Rare.Dis_12_25 |
ESTHER : Jones_2017_Orphanet.J.Rare.Dis_12_25 |
PubMedSearch : Jones_2017_Orphanet.J.Rare.Dis_12_25 |
PubMedID: 28179030 |
Gene_locus related to this paper: human-LIPA |
Title : Draft Genome Sequence of Pseudomonas moraviensis R28-S - Hunter_2014_Genome.Announc_2_e00035 |
Author(s) : Hunter SS , Yano H , Loftie-Eaton W , Hughes J , De Gelder L , Stragier P , De Vos P , Settles ML , Top EM |
Ref : Genome Announc , 2 : , 2014 |
Abstract : Hunter_2014_Genome.Announc_2_e00035 |
ESTHER : Hunter_2014_Genome.Announc_2_e00035 |
PubMedSearch : Hunter_2014_Genome.Announc_2_e00035 |
PubMedID: 24558233 |
Gene_locus related to this paper: 9psed-v8rex5 , 9psed-v8r8z0 |
Title : Genomic organization and structure of alpha-hydroxynitrile lyase in cassava (Manihot esculenta Crantz) - Hughes_1998_Arch.Biochem.Biophys_356_107 |
Author(s) : Hughes J , Keresztessy Z , Brown K , Suhandono S , Hughes MA |
Ref : Archives of Biochemistry & Biophysics , 356 :107 , 1998 |
Abstract : Hughes_1998_Arch.Biochem.Biophys_356_107 |
ESTHER : Hughes_1998_Arch.Biochem.Biophys_356_107 |
PubMedSearch : Hughes_1998_Arch.Biochem.Biophys_356_107 |
PubMedID: 9705200 |
Gene_locus related to this paper: manes-HNL4 |
Title : Purification, characterization, and cloning of alpha-hydroxynitrile lyase from cassava (Manihot esculenta Crantz) - Hughes_1994_Arch.Biochem.Biophys_311_496 |
Author(s) : Hughes J , Carvalho FJ , Hughes MA |
Ref : Archives of Biochemistry & Biophysics , 311 :496 , 1994 |
Abstract : Hughes_1994_Arch.Biochem.Biophys_311_496 |
ESTHER : Hughes_1994_Arch.Biochem.Biophys_311_496 |
PubMedSearch : Hughes_1994_Arch.Biochem.Biophys_311_496 |
PubMedID: 8203915 |
Gene_locus related to this paper: manes-hnl |