ES2731920T3 - Método para el diagnóstico de la enfermedad de Niemann-Pick - Google Patents

Método para el diagnóstico de la enfermedad de Niemann-Pick Download PDF

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Publication number
ES2731920T3
ES2731920T3 ES14724315T ES14724315T ES2731920T3 ES 2731920 T3 ES2731920 T3 ES 2731920T3 ES 14724315 T ES14724315 T ES 14724315T ES 14724315 T ES14724315 T ES 14724315T ES 2731920 T3 ES2731920 T3 ES 2731920T3
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ES
Spain
Prior art keywords
niemann
biomarker
subject
disease
level
Prior art date
Legal status (The legal status 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 status listed.)
Active
Application number
ES14724315T
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English (en)
Spanish (es)
Inventor
Arndt Rolfs
Hermann Mascher
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Centogene GmbH
Original Assignee
Centogene GmbH
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Publication date
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Classifications

    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/92Chemical 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
    • HELECTRICITY
    • H01ELECTRIC ELEMENTS
    • H01JELECTRIC DISCHARGE TUBES OR DISCHARGE LAMPS
    • H01J49/00Particle spectrometers or separator tubes
    • H01J49/0027Methods for using particle spectrometers
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2405/00Assays, e.g. immunoassays or enzyme assays, involving lipids
    • G01N2405/04Phospholipids, i.e. phosphoglycerides
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2405/00Assays, e.g. immunoassays or enzyme assays, involving lipids
    • G01N2405/08Sphingolipids
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/04Endocrine or metabolic disorders
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/52Predicting 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)
  • Engineering & Computer Science (AREA)
  • Molecular Biology (AREA)
  • Chemical & Material Sciences (AREA)
  • Urology & Nephrology (AREA)
  • Immunology (AREA)
  • Biomedical Technology (AREA)
  • Hematology (AREA)
  • Analytical Chemistry (AREA)
  • Food Science & Technology (AREA)
  • Biotechnology (AREA)
  • Endocrinology (AREA)
  • Biophysics (AREA)
  • Cell Biology (AREA)
  • Medicinal Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Microbiology (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)
ES14724315T 2013-05-14 2014-05-14 Método para el diagnóstico de la enfermedad de Niemann-Pick Active ES2731920T3 (es)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
EP13002515 2013-05-14
PCT/EP2014/001306 WO2014183873A1 (en) 2013-05-14 2014-05-14 Method for the diagnosis of niemann-pick disease

Publications (1)

Publication Number Publication Date
ES2731920T3 true ES2731920T3 (es) 2019-11-19

Family

ID=48428310

Family Applications (1)

Application Number Title Priority Date Filing Date
ES14724315T Active ES2731920T3 (es) 2013-05-14 2014-05-14 Método para el diagnóstico de la enfermedad de Niemann-Pick

Country Status (10)

Country Link
US (1) US10302664B2 (cg-RX-API-DMAC7.html)
EP (1) EP2997384B1 (cg-RX-API-DMAC7.html)
JP (2) JP6660291B2 (cg-RX-API-DMAC7.html)
CA (1) CA2912274A1 (cg-RX-API-DMAC7.html)
CY (1) CY1121790T1 (cg-RX-API-DMAC7.html)
DK (1) DK2997384T3 (cg-RX-API-DMAC7.html)
ES (1) ES2731920T3 (cg-RX-API-DMAC7.html)
SA (1) SA515370129B1 (cg-RX-API-DMAC7.html)
TR (1) TR201906195T4 (cg-RX-API-DMAC7.html)
WO (1) WO2014183873A1 (cg-RX-API-DMAC7.html)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP3004896B1 (en) * 2013-06-07 2019-09-18 Genzyme Corporation Marker for acid sphingomyelinase disorders and uses thereof
AU2015349030A1 (en) * 2014-11-19 2017-05-04 Centogene Gmbh Method for the diagnosis of Niemann-Pick disease using a biomarker
JP7568648B2 (ja) * 2019-05-31 2024-10-16 ジェンザイム・コーポレーション 二次元lc-ms/msシステム

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
KR20090006837A (ko) * 2006-03-24 2009-01-15 페노미넘 디스커버리스 인코포레이티드 전립선 암 진단용 생물표지자 및 그의 제조방법
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
PL2470199T3 (pl) * 2009-08-28 2019-11-29 Icahn School Med Mount Sinai Enzymatyczna terapia zastępcza ze zwiększaniem dawki do leczenia niedoboru kwaśnej sfingomielinazy

Also Published As

Publication number Publication date
CY1121790T1 (el) 2020-07-31
EP2997384A1 (en) 2016-03-23
SA515370129B1 (ar) 2019-11-18
JP6989636B2 (ja) 2022-01-05
US20160109470A1 (en) 2016-04-21
JP2020101554A (ja) 2020-07-02
US10302664B2 (en) 2019-05-28
CA2912274A1 (en) 2014-11-20
WO2014183873A1 (en) 2014-11-20
TR201906195T4 (tr) 2019-05-21
JP2016522406A (ja) 2016-07-28
DK2997384T3 (da) 2019-07-22
JP6660291B2 (ja) 2020-03-11
EP2997384B1 (en) 2019-04-10

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