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1. (WO2018162362) A SCREENING METHOD FOR CEREBROTENDINOUS XANTHOMATOSIS USING BILE ALCOHOL GLUCURONIDES AND METABOLITE RATIOS
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Pub. No.: WO/2018/162362 International Application No.: PCT/EP2018/055236
Publication Date: 13.09.2018 International Filing Date: 04.03.2018
IPC:
G01N 33/68 (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
68
involving proteins, peptides or amino acids
Applicants:
ACADEMISCH MEDISCH CENTRUM [NL/NL]; Meibergdreef 9 1105 AZ Amsterdam, NL
Inventors:
VAZ, Frederic Maxime; NL
Agent:
DE PAUW, Elmar; NL
Priority Data:
17159344.506.03.2017EP
Title (EN) A SCREENING METHOD FOR CEREBROTENDINOUS XANTHOMATOSIS USING BILE ALCOHOL GLUCURONIDES AND METABOLITE RATIOS
(FR) PROCÉDÉ DE CRIBLAGE DE XANTHOMATOSE CÉRÉBROTENDINEUSE FAISANT APPEL À DES GLUCURONIDES D’ALCOOL BILIAIRE ET À DES RAPPORTS DE MÉTABOLITES
Abstract:
(EN) The invention relates to a method of diagnosing or screening for 27 -hydroxylase (CYP27A1) deficiency in an animal comprising: determining in a biological sample the intensity signal by mass analysis of at least a bile alcohol glucuronide and a C24- or C27-bile acid or a conjugate thereof, comparing the intensity signals to a control sample or control value, and determining 27-hydroxylase (CYP27A1) deficiency based on said comparison.
(FR) La présente invention concerne un procédé de diagnostic ou de criblage d’une carence en 27-hydroxylase (CYP27A1) chez un animal consistant : à déterminer, dans un échantillon biologique, le signal d’intensité par analyse de masse d’au moins un glucuronide d’alcool biliaire et un acide biliaire en C24 ou C27 ou son conjugué, à comparer les signaux d’intensité à un échantillon témoin ou une valeur témoin, et à déterminer la carence en 27-hydroxylase (CYP27A1) sur la base de ladite comparaison.
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, DJ, DK, DM, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IR, IS, JO, JP, KE, KG, KH, KN, KP, KR, KW, 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)