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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 : Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes - Reid_2016_Brain_139_2844 |
| Author(s) : Reid ES , Papandreou A , Drury S , Boustred C , Yue WW , Wedatilake Y , Beesley C , Jacques TS , Anderson G , Abulhoul L , Broomfield A , Cleary M , Grunewald S , Varadkar SM , Lench N , Rahman S , Gissen P , Clayton PT , Mills PB |
| Ref : Brain , 139 :2844 , 2016 |
| Abstract : Reid_2016_Brain_139_2844 |
| ESTHER : Reid_2016_Brain_139_2844 |
| PubMedSearch : Reid_2016_Brain_139_2844 |
| PubMedID: 27604308 |