MX381530B - Método in vitro para el diagnóstico de la enfermedad de niemann-pick. - Google Patents

Método in vitro para el diagnóstico de la enfermedad de niemann-pick.

Info

Publication number
MX381530B
MX381530B MX2018011628A MX2018011628A MX381530B MX 381530 B MX381530 B MX 381530B MX 2018011628 A MX2018011628 A MX 2018011628A MX 2018011628 A MX2018011628 A MX 2018011628A MX 381530 B MX381530 B MX 381530B
Authority
MX
Mexico
Prior art keywords
niemann
diagnosis
pick disease
subject
pick
Prior art date
Application number
MX2018011628A
Other languages
English (en)
Spanish (es)
Inventor
Arndt Rolfs
Hermann Mascher
Original Assignee
Centogene Gmbh
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 Gmbh filed Critical Centogene Gmbh
Publication of MX381530B publication Critical patent/MX381530B/es

Links

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
    • G01N33/53Immunoassay; Biospecific binding assay; Materials therefor
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N30/00Investigating or analysing materials by separation into components using adsorption, absorption or similar phenomena or using ion-exchange, e.g. chromatography or field flow fractionation
    • G01N30/02Column chromatography
    • G01N30/62Detectors specially adapted therefor
    • G01N30/72Mass spectrometers
    • G01N30/7233Mass spectrometers interfaced to liquid or supercritical fluid chromatograph
    • 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
    • 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

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)
  • Hematology (AREA)
  • Urology & Nephrology (AREA)
  • Biomedical Technology (AREA)
  • Physics & Mathematics (AREA)
  • General Health & Medical Sciences (AREA)
  • Pathology (AREA)
  • Biochemistry (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • General Physics & Mathematics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Biophysics (AREA)
  • Food Science & Technology (AREA)
  • Medicinal Chemistry (AREA)
  • Cell Biology (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Genetics & Genomics (AREA)
  • Endocrinology (AREA)
  • General Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (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)
MX2018011628A 2011-11-15 2012-11-15 Método in vitro para el diagnóstico de la enfermedad de niemann-pick. MX381530B (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 (1)

Publication Number Publication Date
MX381530B true MX381530B (es) 2025-03-12

Family

ID=47221301

Family Applications (2)

Application Number Title Priority Date Filing Date
MX2018011628A MX381530B (es) 2011-11-15 2012-11-15 Método in vitro para el diagnóstico de la enfermedad de niemann-pick.
MX2014005923A MX359328B (es) 2011-11-15 2012-11-15 Metodo para el diagnostico de enfermedad de niemann-pick.

Family Applications After (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 (enExample)
EP (1) EP2780716B1 (enExample)
JP (2) JP6243846B2 (enExample)
AU (3) AU2012339149A1 (enExample)
BR (1) BR112014009223B1 (enExample)
CA (1) CA2854668A1 (enExample)
CY (1) CY1122360T1 (enExample)
DK (1) DK2780716T3 (enExample)
IL (1) IL231982B (enExample)
MX (2) MX381530B (enExample)
WO (1) WO2013072060A2 (enExample)

Families Citing this family (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US9983200B2 (en) 2013-03-14 2018-05-29 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
EP3584580A1 (en) 2013-06-07 2019-12-25 Genzyme Corporation Recombinant human acid sphingomyelinase for use in treating human asmd
ES2992800T3 (en) 2014-10-28 2024-12-18 Washington University St Louis Bile acid biomarkers for niemann-pick diseases, methods and uses therefor
CA2967504A1 (en) * 2014-11-19 2016-05-26 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
CN112689762B (zh) * 2018-06-01 2024-08-23 美国控股实验室公司 用于lc-ms/ms蛋白质组学基因分型的方法和系统
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
EP4562432A2 (en) * 2022-07-28 2025-06-04 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
WO2003092601A2 (en) * 2002-04-30 2003-11-13 Seikagaku Corporation A method for detecting lysosomal storage diseases
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
JP2018054620A (ja) 2018-04-05
AU2018229451A1 (en) 2018-10-04
WO2013072060A8 (en) 2014-07-17
US10422789B2 (en) 2019-09-24
US11841362B2 (en) 2023-12-12
JP6243846B2 (ja) 2017-12-06
JP2014533367A (ja) 2014-12-11
MX2014005923A (es) 2014-09-08
AU2018229451B2 (en) 2021-04-01
US20200072819A1 (en) 2020-03-05
BR112014009223A2 (pt) 2017-06-13
AU2021204429B2 (en) 2024-01-25
US20180088107A1 (en) 2018-03-29
AU2012339149A1 (en) 2014-04-24
JP6711807B2 (ja) 2020-06-17
AU2012339149A8 (en) 2014-05-08
WO2013072060A2 (en) 2013-05-23
BR112014009223A8 (pt) 2017-06-20
BR112014009223B1 (pt) 2021-04-06
DK2780716T3 (da) 2019-10-14
US11231412B2 (en) 2022-01-25
AU2021204429A1 (en) 2021-07-29
CY1122360T1 (el) 2021-01-27
WO2013072060A3 (en) 2013-07-25
CA2854668A1 (en) 2013-05-23
IL231982B (en) 2020-01-30
US20220187283A1 (en) 2022-06-16
US9910033B2 (en) 2018-03-06
EP2780716B1 (en) 2019-07-31
US20140309140A1 (en) 2014-10-16
MX359328B (es) 2018-09-25
IL231982A0 (en) 2014-05-28
EP2780716A2 (en) 2014-09-24

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