Mutation in SGPL1, Causing Sphingosine-1-Phosphate Lyase Deficiency, Leads to a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic Syndrome
dc.contributor.author | Braslavsky, D | |
dc.contributor.author | Barbagelata, E | |
dc.contributor.author | Prasad, R | |
dc.contributor.author | Cassinelli, H | |
dc.contributor.author | Maharaj, A | |
dc.contributor.author | Piantanida, JJ | |
dc.contributor.author | Wainberg, E | |
dc.contributor.author | Vallejo, G | |
dc.contributor.author | Metherell, L | |
dc.contributor.author | Bergada, I | |
dc.date.accessioned | 2021-06-04T08:36:10Z | |
dc.date.available | 2021-06-04T08:36:10Z | |
dc.date.issued | 2016 | |
dc.identifier.issn | 1663-2818 | |
dc.identifier.uri | https://qmro.qmul.ac.uk/xmlui/handle/123456789/72319 | |
dc.format.extent | 1 - 2 | |
dc.title | Mutation in SGPL1, Causing Sphingosine-1-Phosphate Lyase Deficiency, Leads to a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic Syndrome | en_US |
dc.type | Conference Proceeding | en_US |
pubs.author-url | http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000388504100003&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=612ae0d773dcbdba3046f6df545e9f6a | en_US |
pubs.notes | Not known | en_US |
pubs.publication-status | Published | en_US |
pubs.volume | 86 | en_US |
qmul.funder | Antioxidant defence in adrenocortical cells::MRC | en_US |
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Centre for Endocrinology [560]