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 (enExample)
EP (1) EP2997384B1 (enExample)
JP (2) JP6660291B2 (enExample)
CA (1) CA2912274A1 (enExample)
CY (1) CY1121790T1 (enExample)
DK (1) DK2997384T3 (enExample)
ES (1) ES2731920T3 (enExample)
SA (1) SA515370129B1 (enExample)
TR (1) TR201906195T4 (enExample)
WO (1) WO2014183873A1 (enExample)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR102292298B1 (ko) * 2013-06-07 2021-08-24 젠자임 코포레이션 산 스핑고미엘리나제 장애에 대한 마커 및 이의 용도
AU2015349030A1 (en) * 2014-11-19 2017-05-04 Centogene Gmbh Method for the diagnosis of Niemann-Pick disease using a biomarker
CN119861166A (zh) * 2019-05-31 2025-04-22 建新公司 二维lc-ms/ms系统

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
US8173443B2 (en) * 2003-03-31 2012-05-08 Women's And Children's Hospital Multiplex screening for lysosomal storage disorders (LSDs)
US7750050B2 (en) * 2003-11-25 2010-07-06 Mount Sinai School Of Medicine Of New York University Chaperone-based therapy for Niemann-Pick disease
WO2007109881A1 (en) * 2006-03-24 2007-10-04 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
KR20200034828A (ko) * 2009-08-28 2020-03-31 이칸 스쿨 오브 메디슨 엣 마운트 시나이 산성 스핑고미엘리나제 결핍을 치료하기 위한 투여량 단계적 증가 효소 대체 요법

Also Published As

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

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