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1. (WO2017037237) NOVEL METHODS AND KITS FOR DETECTING UREA CYCLE DISORDERS USING MASS SPECTROMETRY
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Pub. No.: WO/2017/037237 International Application No.: PCT/EP2016/070724
Publication Date: 09.03.2017 International Filing Date: 02.09.2016
IPC:
G01N 33/68 (2006.01) ,G01N 33/58 (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
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
58
involving labelled substances
Applicants:
LABSYSTEMS DIAGNOSTICS OY [FI/FI]; Tiilitie 3 01720 Vantaa, FI
Inventors:
CARRARD, Géraldine; FI
FINGERHUT, Ralph; DE
Agent:
LECCA, Patricia; FR
Priority Data:
EP15183561.802.09.2015EP
EP15188615.706.10.2015EP
Title (EN) NOVEL METHODS AND KITS FOR DETECTING UREA CYCLE DISORDERS USING MASS SPECTROMETRY
(FR) PROCÉDÉS INNOVANTS ET TROUSSES DE DÉTECTION DE TROUBLES DU CYCLE DE L'URÉE PAR SPECTROMÉTRIE DE MASSE
Abstract:
(EN) The present invention relates to newborn screening kits, methods, stable isotopically-labeled internal standards or internal standard solution for high throughput screening and analysis of metabolic disorders using liquid chromatography mass spectrometry (LC-MS) are provided. The metabolic disorders can be amino acid, organic acid or fatty acid oxidation disorders, and particularly urea cycle disorders or deficiencies, hyperammonemia, Hyperornithinemia- hyperammonemia-homocitrullinuria (HHH), and/or argininosuccinic aciduria. The newborn screening kits, methods, stable isotopically-labeled internal standards or internal standard solution are particularly useful for newborn screening (NBS) of metabolic disorders.
(FR) La présente invention porte sur des trousses de recherche chez les nouveau-nés, des procédés, des normes internes ou une solution de normes internes étiquetées par isotopes pour la recherche et l'analyse à haut rendement de troubles métaboliques par spectrométrie de masse par chromatographie liquide (LC-MS). Les troubles métaboliques peuvent être des troubles d'oxydation d'acides aminés, d'acides organiques ou d'acides gras, et particulièrement des troubles ou des déficiences du cycle de l'urée, de l'hyperammoniémie, de l'hyperornithinémie-hyperammoniémie-homocitrullinurie (HHH), et/ou de l'acidurie argininosuccinique. Les trousses de recherche de nouveau-nés, les procédés, les normes internes ou la solution de normes internes étiquetées par isotopes sont particulièrement utiles pour la recherche chez les nouveau-nés (NBS) de troubles métaboliques.
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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)