JP2017538927A - バイオマーカーを用いたニーマン・ピック病の診断のための方法 - Google Patents

バイオマーカーを用いたニーマン・ピック病の診断のための方法 Download PDF

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JP2017538927A
JP2017538927A JP2017526906A JP2017526906A JP2017538927A JP 2017538927 A JP2017538927 A JP 2017538927A JP 2017526906 A JP2017526906 A JP 2017526906A JP 2017526906 A JP2017526906 A JP 2017526906A JP 2017538927 A JP2017538927 A JP 2017538927A
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biomarker
pick disease
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sample
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JP2017538927A5 (enExample
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アーント ロルフス
アーント ロルフス
ヘルマン マスケル
ヘルマン マスケル
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セントジーン アーゲー
セントジーン アーゲー
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    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/92—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving lipids, e.g. cholesterol, lipoproteins, or their receptors
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2405/00—Assays, e.g. immunoassays or enzyme assays, involving lipids
    • G01N2405/08—Sphingolipids
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2560/00—Chemical aspects of mass spectrometric analysis of biological material
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/04—Endocrine or metabolic disorders
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/50—Determining the risk of developing a disease
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/52—Predicting or monitoring the response to treatment, e.g. for selection of therapy based on assay results in personalised medicine; Prognosis

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  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
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  • Molecular Biology (AREA)
  • Immunology (AREA)
  • Analytical Chemistry (AREA)
  • Urology & Nephrology (AREA)
  • Hematology (AREA)
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  • Proteomics, Peptides & Aminoacids (AREA)
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  • Physics & Mathematics (AREA)
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  • Wood Science & Technology (AREA)
  • Endocrinology (AREA)
  • Cell Biology (AREA)
  • Food Science & Technology (AREA)
  • Medicinal Chemistry (AREA)
  • General Physics & Mathematics (AREA)
  • General Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Other Investigation Or Analysis Of Materials By Electrical Means (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
JP2017526906A 2014-11-19 2015-11-19 バイオマーカーを用いたニーマン・ピック病の診断のための方法 Ceased JP2017538927A (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
EP14003888 2014-11-19
EP14003888.6 2014-11-19
PCT/EP2015/002313 WO2016078762A1 (en) 2014-11-19 2015-11-19 Method for the diagnosis of niemann-pick disease using a biomarker

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JP2017538927A true JP2017538927A (ja) 2017-12-28
JP2017538927A5 JP2017538927A5 (enExample) 2019-09-05

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JP2017526906A Ceased JP2017538927A (ja) 2014-11-19 2015-11-19 バイオマーカーを用いたニーマン・ピック病の診断のための方法

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US (1) US20180348239A1 (enExample)
EP (1) EP3221705A1 (enExample)
JP (1) JP2017538927A (enExample)
AU (1) AU2015349030A1 (enExample)
BR (1) BR112017009605A2 (enExample)
CA (1) CA2967504A1 (enExample)
IL (1) IL251879A0 (enExample)
WO (1) WO2016078762A1 (enExample)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2022513735A (ja) * 2018-12-10 2022-02-09 デナリ セラピューティクス インコーポレイテッド リソソーム蓄積障害のバイオマーカー及びその使用方法

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2021036201A (ja) * 2017-12-18 2021-03-04 国立研究開発法人国立成育医療研究センター ニーマンピック病ｃ型の診断のための検査方法

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20090286272A1 (en) * 2008-04-11 2009-11-19 Ory Daniel S Biomarkers for niemann-pick C disease and related disorders
WO2013072060A2 (en) * 2011-11-15 2013-05-23 Centogene Gmbh Method for the diagnosis of niemann-pick disease

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2014183873A1 (en) * 2013-05-14 2014-11-20 Centogene Ag Method for the diagnosis of niemann-pick disease

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20090286272A1 (en) * 2008-04-11 2009-11-19 Ory Daniel S Biomarkers for niemann-pick C disease and related disorders
WO2013072060A2 (en) * 2011-11-15 2013-05-23 Centogene Gmbh Method for the diagnosis of niemann-pick disease

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
CLAIRE RODRIGUEZ-LAFRASSE: "Sphingosylphosphorylcholine in Niemann-Pick Disease Brain:Accumulation in Type A But Not in Type B", NEUROCHEMICAL RESEARCH, vol. 24, no. 2, JPN5015001081, 1 February 1999 (1999-02-01), pages 199 - 205, ISSN: 0004276691 *
FUJIWAKI, T. ET AL.: "Quantitative evaluation of sphingomyelin and glucosylceramide using matrix-assisted laser desorption", J CHROMATOGR B ANALYT TECHNOL BIOMED LIFE SCI., vol. 15, no. 870, JPN6018008514, 16 May 2008 (2008-05-16), pages 170 - 176, ISSN: 0004276692 *

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2022513735A (ja) * 2018-12-10 2022-02-09 デナリ セラピューティクス インコーポレイテッド リソソーム蓄積障害のバイオマーカー及びその使用方法

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Publication number Publication date
BR112017009605A2 (pt) 2017-12-19
AU2015349030A1 (en) 2017-05-04
US20180348239A1 (en) 2018-12-06
IL251879A0 (en) 2017-06-29
EP3221705A1 (en) 2017-09-27
WO2016078762A1 (en) 2016-05-26
CA2967504A1 (en) 2016-05-26

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