TR201906195T4 - Niemann pıck hastalığının teşhisi için metot. - Google Patents

Niemann pıck hastalığının teşhisi için metot. Download PDF

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Publication number
TR201906195T4
TR201906195T4 TR2019/06195T TR201906195T TR201906195T4 TR 201906195 T4 TR201906195 T4 TR 201906195T4 TR 2019/06195 T TR2019/06195 T TR 2019/06195T TR 201906195 T TR201906195 T TR 201906195T TR 201906195 T4 TR201906195 T4 TR 201906195T4
Authority
TR
Turkey
Prior art keywords
pick disease
niemann pick
subject
diagnosing niemann
diagnosing
Prior art date
Application number
TR2019/06195T
Other languages
English (en)
Inventor
Rolfs Arndt
Mascher Hermann
Original Assignee
Centogene Ag
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Centogene Ag filed Critical Centogene Ag
Publication of TR201906195T4 publication Critical patent/TR201906195T4/tr

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Classifications

    • 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
    • H—ELECTRICITY
    • H01—ELECTRIC ELEMENTS
    • H01J—ELECTRIC DISCHARGE TUBES OR DISCHARGE LAMPS
    • H01J49/00—Particle spectrometers or separator tubes
    • H01J49/0027—Methods for using particle spectrometers
    • 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
    • G01N2405/04—Phospholipids, i.e. phosphoglycerides
    • 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
    • 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
    • G01N2800/52—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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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Molecular Biology (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Immunology (AREA)
  • Hematology (AREA)
  • Urology & Nephrology (AREA)
  • Biomedical Technology (AREA)
  • Analytical Chemistry (AREA)
  • Cell Biology (AREA)
  • Physics & Mathematics (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Biophysics (AREA)
  • Food Science & Technology (AREA)
  • Medicinal Chemistry (AREA)
  • Endocrinology (AREA)
  • Biochemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • General Physics & Mathematics (AREA)
  • Pathology (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)

Abstract

Buluş, bir denekteki Niemann Pick hastalığının teşhisi için bir metot, bir denekteki Niemann Pick hastalığının seyrinin belirlenmesi için bir metot, Niemann Pick hastalığının tanısı içerisinde bir biyolojik işaretleyicinin tespit edilmesi için bir deneğe kütle spektrometrik analizin kullanımı ile uygulanmış olan en az bir tedavinin etkinliğini belirlemek için bir metot, ve bir denekten alınan bir numune içerisinde biyolojik işaretleyicinin varlığının tespit edilmesi için bir kit ile alakalıdır.
TR2019/06195T 2013-05-14 2014-05-14 Niemann pıck hastalığının teşhisi için metot. TR201906195T4 (tr)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
EP13002515 2013-05-14

Publications (1)

Publication Number Publication Date
TR201906195T4 true TR201906195T4 (tr) 2019-05-21

Family

ID=48428310

Family Applications (1)

Application Number Title Priority Date Filing Date
TR2019/06195T TR201906195T4 (tr) 2013-05-14 2014-05-14 Niemann pıck hastalığının teşhisi için metot.

Country Status (10)

Country Link
US (1) US10302664B2 (tr)
EP (1) EP2997384B1 (tr)
JP (2) JP6660291B2 (tr)
CA (1) CA2912274A1 (tr)
CY (1) CY1121790T1 (tr)
DK (1) DK2997384T3 (tr)
ES (1) ES2731920T3 (tr)
SA (1) SA515370129B1 (tr)
TR (1) TR201906195T4 (tr)
WO (1) WO2014183873A1 (tr)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN105474017A (zh) * 2013-06-07 2016-04-06 建新公司 酸性鞘磷脂酶病症的标志物及其用途
AU2015349030A1 (en) * 2014-11-19 2017-05-04 Centogene Gmbh Method for the diagnosis of Niemann-Pick disease using a biomarker

Family Cites Families (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB9908190D0 (en) * 1999-04-09 1999-06-02 Pharming Intellectual Pty Bv Diagnosis of lysosomal storage disorders using saposins and other markers
GB0128498D0 (en) * 2001-11-28 2002-01-23 Inst Of Child Health International standards for sphingolipids
EP1616193B1 (en) * 2003-03-31 2012-03-21 Women's And Children's Hospital MULTIPLEX SCREENING FOR LYSOSOMAL STORAGE DISORDERS (LSDs)
JP2007514661A (ja) * 2003-11-25 2007-06-07 マウント シナイ スクール オブ メディスン オブ ニューヨーク ユニバーシティー ニーマンピック病のシャペロンに基づく治療方法
US8409794B2 (en) * 2006-03-24 2013-04-02 Phenomenome Discoveries Inc. Biomarkers useful for diagnosing prostate cancer, and methods thereof
US8497122B2 (en) * 2008-04-11 2013-07-30 Washington University Biomarkers for Niemann-pick C disease and related disorders
US8313949B2 (en) * 2009-04-16 2012-11-20 Nextcea Inc. Detecting phospholipidosis and diagnosing lysosomal storage disorders
EP2470199B1 (en) * 2009-08-28 2019-05-22 Icahn School of Medicine at Mount Sinai Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency

Also Published As

Publication number Publication date
CY1121790T1 (el) 2020-07-31
JP2016522406A (ja) 2016-07-28
ES2731920T3 (es) 2019-11-19
WO2014183873A1 (en) 2014-11-20
JP6989636B2 (ja) 2022-01-05
DK2997384T3 (da) 2019-07-22
JP2020101554A (ja) 2020-07-02
SA515370129B1 (ar) 2019-11-18
US10302664B2 (en) 2019-05-28
CA2912274A1 (en) 2014-11-20
US20160109470A1 (en) 2016-04-21
EP2997384A1 (en) 2016-03-23
JP6660291B2 (ja) 2020-03-11
EP2997384B1 (en) 2019-04-10

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