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1. (WO2017037465) DIAGNOSTIC METHODS AND KITS
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Pub. No.: WO/2017/037465 International Application No.: PCT/GB2016/052710
Publication Date: 09.03.2017 International Filing Date: 02.09.2016
Chapter 2 Demand Filed: 29.06.2017
IPC:
G01N 33/92 (2006.01)
G PHYSICS
01
MEASURING; TESTING
N
INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
33
Investigating or analysing materials by specific methods not covered by groups G01N1/-G01N31/131
48
Biological material, e.g. blood, urine; Haemocytometers
50
Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
92
involving lipids, e.g. cholesterol
Applicants:
SWANSEA UNIVERSITY [GB/GB]; Department of Research and Innovation Singleton Park Swansea, West Glamorgan SA2 8PP, GB
Inventors:
GRIFFITHS, William; GB
WANG, Yuqin; GB
ABDEL-KHALIK, Jonas; GB
Agent:
BRADLEY, Adrian; GB
Priority Data:
1515573.202.09.2015GB
1516441.116.09.2015GB
1608459.213.05.2016GB
Title (EN) DIAGNOSTIC METHODS AND KITS
(FR) MÉTHODES DIAGNOSTIQUES ET KITS
Abstract:
(EN) The present invention relates to methods for the diagnosis or prognosis of conditions caused by defects in cholesterol biosynthesis, such as Smith-Lemli-Opitz syndrome (SLOS), in particular to early diagnostic methods including in utero methods. In one aspect, the method compries detecting in a biological sample levels of delta-5 bile acid conjugated with 2-(acetylamino)-2-deoxy-D-glucose (GlcNAc) of formula (I)
(FR) La présente invention concerne des méthodes pour le diagnostic ou le pronostic d'états provoqués par des défauts dans la biosynthèse du cholestérol, tels que le syndrome de Smith-Lemli-Opitz (SLOS), en particulier des méthodes de diagnostic précoce comprenant des méthodes in utero. Dans un aspect de l'invention, le procédé consiste à détecter dans un échantillon biologique les taux d'acide delta-5 biliaire conjugué avec 2- (acétylamino)-2-désoxy-D-glucose (GlcNAc) de formule (I).
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Designated States: AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DK, DM, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IR, IS, JP, KE, KG, KN, KP, KR, KZ, LA, LC, LK, LR, LS, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW
African Regional Intellectual Property Organization (ARIPO) (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, TZ, UG, ZM, ZW)
Eurasian Patent Office (AM, AZ, BY, KG, KZ, RU, TJ, TM)
European Patent Office (EPO) (AL, AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, SM, TR)
African Intellectual Property Organization (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG)
Publication Language: English (EN)
Filing Language: English (EN)