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MX2018000189A - Metodo para el diagnostico de la enfermedad de farber. - Google Patents

Metodo para el diagnostico de la enfermedad de farber.

Info

Publication number
MX2018000189A
MX2018000189A MX2018000189A MX2018000189A MX2018000189A MX 2018000189 A MX2018000189 A MX 2018000189A MX 2018000189 A MX2018000189 A MX 2018000189A MX 2018000189 A MX2018000189 A MX 2018000189A MX 2018000189 A MX2018000189 A MX 2018000189A
Authority
MX
Mexico
Prior art keywords
disease
farber
diagnosis
subject
ceramide
Prior art date
Application number
MX2018000189A
Other languages
English (en)
Inventor
Rolfs Arndt
Cozma Claudia
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 MX2018000189A publication Critical patent/MX2018000189A/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
    • G01N33/92—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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • A61K48/005—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy characterised by an aspect of the 'active' part of the composition delivered, i.e. the nucleic acid delivered
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P3/00—Drugs for disorders of the metabolism
    • 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
    • G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6803—General methods of protein analysis not limited to specific proteins or families of proteins
    • G01N33/6848—Methods of protein analysis involving mass spectrometry
    • G01N33/6851—Methods of protein analysis involving laser desorption ionisation mass spectrometry
    • 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
    • G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6893—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids related to diseases not provided for elsewhere
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y305/00—Hydrolases acting on carbon-nitrogen bonds, other than peptide bonds (3.5)
    • C12Y305/01—Hydrolases acting on carbon-nitrogen bonds, other than peptide bonds (3.5) in linear amides (3.5.1)
    • C12Y305/01023—Ceramidase (3.5.1.23)
    • 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
    • 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
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/60—Complex ways of combining multiple protein biomarkers for diagnosis

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Molecular Biology (AREA)
  • Chemical & Material Sciences (AREA)
  • Hematology (AREA)
  • Biomedical Technology (AREA)
  • Immunology (AREA)
  • Urology & Nephrology (AREA)
  • Physics & Mathematics (AREA)
  • General Health & Medical Sciences (AREA)
  • Medicinal Chemistry (AREA)
  • Biotechnology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Microbiology (AREA)
  • Analytical Chemistry (AREA)
  • Biochemistry (AREA)
  • Cell Biology (AREA)
  • Food Science & Technology (AREA)
  • Biophysics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Endocrinology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Obesity (AREA)
  • Diabetes (AREA)
  • Organic Chemistry (AREA)
  • Optics & Photonics (AREA)
  • Genetics & Genomics (AREA)
  • Epidemiology (AREA)
  • Investigating Or Analysing Biological Materials (AREA)

Abstract

La presente invención se refiere a un método para diagnosticar la enfermedad de Farber en un sujeto, en donde el método comprende la detección de ceramida de C26 en una muestra del sujeto.
MX2018000189A 2015-07-08 2016-07-08 Metodo para el diagnostico de la enfermedad de farber. MX2018000189A (es)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
EP15002041.0A EP3115786A1 (en) 2015-07-08 2015-07-08 Method for the diagnosis of farber's disease
PCT/EP2016/001182 WO2017005374A1 (en) 2015-07-08 2016-07-08 Method for the diagnosis of farber's disease

Publications (1)

Publication Number Publication Date
MX2018000189A true MX2018000189A (es) 2018-08-01

Family

ID=53673711

Family Applications (1)

Application Number Title Priority Date Filing Date
MX2018000189A MX2018000189A (es) 2015-07-08 2016-07-08 Metodo para el diagnostico de la enfermedad de farber.

Country Status (8)

Country Link
US (1) US11204357B2 (es)
EP (2) EP3115786A1 (es)
CN (1) CN109348728A (es)
AU (1) AU2016290904A1 (es)
BR (1) BR112017027304A2 (es)
CA (1) CA2991345A1 (es)
MX (1) MX2018000189A (es)
WO (1) WO2017005374A1 (es)

Families Citing this family (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20190302126A1 (en) * 2018-03-27 2019-10-03 Enzyvant Therapeutics Gmbh Farber disease markers and uses thereof
EP3775924A1 (en) * 2018-03-27 2021-02-17 Enzyvant Therapeutics GmbH Farber disease markers and uses thereof
GB201916046D0 (en) * 2019-11-04 2019-12-18 Amazentis Sa Diagnostic method
EP4533105A1 (en) * 2022-06-01 2025-04-09 Universiteit Antwerpen Method for detecting lysosomal storage disease biomarkers and kits for performing the method

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2009515526A (ja) * 2005-11-12 2009-04-16 シーメンス・ヘルスケア・ダイアグノスティックス・インコーポレーテッド 遺伝子発現プロファイルおよび使用の方法

Also Published As

Publication number Publication date
AU2016290904A1 (en) 2018-01-04
US20180203024A1 (en) 2018-07-19
CA2991345A1 (en) 2017-01-12
EP3320344A1 (en) 2018-05-16
CN109348728A (zh) 2019-02-15
EP3115786A1 (en) 2017-01-11
WO2017005374A1 (en) 2017-01-12
US11204357B2 (en) 2021-12-21
BR112017027304A2 (pt) 2018-09-04

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