MX359328B - Metodo para el diagnostico de enfermedad de niemann-pick. - Google Patents

Metodo para el diagnostico de enfermedad de niemann-pick.

Info

Publication number
MX359328B
MX359328B MX2014005923A MX2014005923A MX359328B MX 359328 B MX359328 B MX 359328B MX 2014005923 A MX2014005923 A MX 2014005923A MX 2014005923 A MX2014005923 A MX 2014005923A MX 359328 B MX359328 B MX 359328B
Authority
MX
Mexico
Prior art keywords
niemann
diagnosis
pick disease
subject
pick
Prior art date
Application number
MX2014005923A
Other languages
English (en)
Other versions
MX2014005923A (es
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 MX2014005923A publication Critical patent/MX2014005923A/es
Publication of MX359328B publication Critical patent/MX359328B/es

Links

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
    • G01N33/53—Immunoassay; Biospecific binding assay; Materials therefor
    • 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
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N30/00—Investigating or analysing materials by separation into components using adsorption, absorption or similar phenomena or using ion-exchange, e.g. chromatography or field flow fractionation
    • G01N30/02—Column chromatography
    • G01N30/62—Detectors specially adapted therefor
    • G01N30/72—Mass spectrometers
    • G01N30/7233—Mass spectrometers interfaced to liquid or supercritical fluid chromatograph
    • 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
    • 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

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Immunology (AREA)
  • Molecular Biology (AREA)
  • Analytical Chemistry (AREA)
  • Urology & Nephrology (AREA)
  • Hematology (AREA)
  • Biomedical Technology (AREA)
  • Pathology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biochemistry (AREA)
  • Physics & Mathematics (AREA)
  • General Physics & Mathematics (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Food Science & Technology (AREA)
  • Cell Biology (AREA)
  • Medicinal Chemistry (AREA)
  • Biophysics (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Wood Science & Technology (AREA)
  • Endocrinology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Other Investigation Or Analysis Of Materials By Electrical Means (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)

Abstract

La presente invención se refiere a un método para diagnosticar enfermedad de Niemann-Pick en un sujeto, en donde el método comprende un paso a), en donde el paso a) comprende detectar un biomarcador en una muestra del sujeto.
MX2014005923A 2011-11-15 2012-11-15 Metodo para el diagnostico de enfermedad de niemann-pick. MX359328B (es)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
EP11009062 2011-11-15
PCT/EP2012/004756 WO2013072060A2 (en) 2011-11-15 2012-11-15 Method for the diagnosis of niemann-pick disease

Publications (2)

Publication Number Publication Date
MX2014005923A MX2014005923A (es) 2014-09-08
MX359328B true MX359328B (es) 2018-09-25

Family

ID=47221301

Family Applications (1)

Application Number Title Priority Date Filing Date
MX2014005923A MX359328B (es) 2011-11-15 2012-11-15 Metodo para el diagnostico de enfermedad de niemann-pick.

Country Status (11)

Country Link
US (4) US9910033B2 (es)
EP (1) EP2780716B1 (es)
JP (2) JP6243846B2 (es)
AU (3) AU2012339149A1 (es)
BR (1) BR112014009223B1 (es)
CA (1) CA2854668A1 (es)
CY (1) CY1122360T1 (es)
DK (1) DK2780716T3 (es)
IL (1) IL231982B (es)
MX (1) MX359328B (es)
WO (1) WO2013072060A2 (es)

Families Citing this family (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2014153083A1 (en) 2013-03-14 2014-09-25 The United States Of America, As Represented By The Secretary, Department Of Health & Human Services Compositions and methods for predicting age of onset of a lysosomal storage disease or a disease associated with a lysosomal defect
EP3004896B1 (en) 2013-06-07 2019-09-18 Genzyme Corporation Marker for acid sphingomyelinase disorders and uses thereof
WO2016069759A1 (en) 2014-10-28 2016-05-06 Washington University Bile acid biomarkers for niemann-pick diseases, methods and uses therefor
EP3221705A1 (en) * 2014-11-19 2017-09-27 Centogene AG Method for the diagnosis of niemann-pick disease using a biomarker
US10656059B2 (en) 2018-03-07 2020-05-19 Alcala Pharmaceutical, Inc. Method for qualitative and quantitative multiplexing of drug analytes from biological samples
EP3803414A1 (en) * 2018-06-01 2021-04-14 Laboratory Corporation of America Holdings Methods and systems for lc-ms/ms proteomic genotyping
CN111289647A (zh) * 2020-03-09 2020-06-16 广州市妇女儿童医疗中心（广州市妇幼保健院、广州市儿童医院、广州市妇婴医院、广州市妇幼保健计划生育服务中心） 葡糖鞘氨醇的检测方法
WO2024026390A2 (en) * 2022-07-28 2024-02-01 Wylder Nation Foundation Compositions and methods for diagnosing, treating, and preventing lysosomal storage diseases

Family Cites Families (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP4498918B2 (ja) * 2002-04-30 2010-07-07 生化学工業株式会社 リソソーム病の検出方法
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
KR102608546B1 (ko) * 2009-08-28 2023-12-04 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
EP2780716B1 (en) 2019-07-31
CY1122360T1 (el) 2021-01-27
US11841362B2 (en) 2023-12-12
US20180088107A1 (en) 2018-03-29
MX2014005923A (es) 2014-09-08
WO2013072060A8 (en) 2014-07-17
AU2012339149A8 (en) 2014-05-08
JP6711807B2 (ja) 2020-06-17
IL231982A0 (en) 2014-05-28
BR112014009223A2 (pt) 2017-06-13
US20200072819A1 (en) 2020-03-05
BR112014009223A8 (pt) 2017-06-20
CA2854668A1 (en) 2013-05-23
US9910033B2 (en) 2018-03-06
BR112014009223B1 (pt) 2021-04-06
US20220187283A1 (en) 2022-06-16
DK2780716T3 (da) 2019-10-14
US20140309140A1 (en) 2014-10-16
AU2018229451A1 (en) 2018-10-04
AU2018229451B2 (en) 2021-04-01
JP2014533367A (ja) 2014-12-11
WO2013072060A3 (en) 2013-07-25
AU2012339149A1 (en) 2014-04-24
US11231412B2 (en) 2022-01-25
IL231982B (en) 2020-01-30
JP2018054620A (ja) 2018-04-05
EP2780716A2 (en) 2014-09-24
AU2021204429A1 (en) 2021-07-29
JP6243846B2 (ja) 2017-12-06
AU2021204429B2 (en) 2024-01-25
WO2013072060A2 (en) 2013-05-23
US10422789B2 (en) 2019-09-24

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