RU2666952C2 - Способ диагностики болезни гоше - Google Patents

Способ диагностики болезни гоше Download PDF

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Publication number
RU2666952C2
RU2666952C2 RU2013158667A RU2013158667A RU2666952C2 RU 2666952 C2 RU2666952 C2 RU 2666952C2 RU 2013158667 A RU2013158667 A RU 2013158667A RU 2013158667 A RU2013158667 A RU 2013158667A RU 2666952 C2 RU2666952 C2 RU 2666952C2
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Russia
Prior art keywords
biomarker
individual
sample
level
gaucher disease
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RU2013158667A
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English (en)
Russian (ru)
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RU2013158667A (ru
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Арндт РОЛЬФС
Херманн МАШЕР
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Центогене Аг
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    • 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
    • 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
    • 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
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14—Hydrolases (3)
    • C12N9/24—Hydrolases (3) acting on glycosyl compounds (3.2)
    • C12N9/2402—Hydrolases (3) acting on glycosyl compounds (3.2) hydrolysing O- and S- glycosyl compounds (3.2.1)
    • C12N9/2405—Glucanases
    • C12N9/2434—Glucanases acting on beta-1,4-glucosidic bonds
    • C12N9/2442—Chitinase (3.2.1.14)
    • 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
    • G01N2405/08—Sphingolipids
    • G01N2405/10—Glycosphingolipids, e.g. cerebrosides, gangliosides
    • 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
    • G01N2800/044—Hyperlipemia or hypolipemia, e.g. dyslipidaemia, obesity

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  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Molecular Biology (AREA)
  • Urology & Nephrology (AREA)
  • Hematology (AREA)
  • Biomedical Technology (AREA)
  • Chemical & Material Sciences (AREA)
  • Immunology (AREA)
  • Medicinal Chemistry (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Pathology (AREA)
  • Biotechnology (AREA)
  • Food Science & Technology (AREA)
  • General Physics & Mathematics (AREA)
  • Physics & Mathematics (AREA)
  • Analytical Chemistry (AREA)
  • Cell Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Endocrinology (AREA)
  • Biophysics (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)
RU2013158667A 2011-06-06 2012-06-06 Способ диагностики болезни гоше RU2666952C2 (ru)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
EP11004597A EP2533051A1 (en) 2011-06-06 2011-06-06 Method for the diagnosis of Gaucher's disease
EP11004597.8 2011-06-06
PCT/EP2012/002409 WO2012167925A1 (en) 2011-06-06 2012-06-06 Method for the diagnosis of gaucher's disease

Related Child Applications (1)

Application Number Title Priority Date Filing Date
RU2018129872A Division RU2780331C2 (ru) 2011-06-06 2012-06-06 Способ диагностики болезни гоше

Publications (2)

Publication Number Publication Date
RU2013158667A RU2013158667A (ru) 2015-07-20
RU2666952C2 true RU2666952C2 (ru) 2018-09-13

Family

ID=44652046

Family Applications (1)

Application Number Title Priority Date Filing Date
RU2013158667A RU2666952C2 (ru) 2011-06-06 2012-06-06 Способ диагностики болезни гоше

Country Status (15)

Country Link
US (3) US10859580B2 (enExample)
EP (4) EP2533051A1 (enExample)
JP (2) JP6120832B2 (enExample)
CN (1) CN103582818B (enExample)
AU (2) AU2012266768B2 (enExample)
BR (1) BR112013031431B1 (enExample)
CA (1) CA2837609C (enExample)
DK (2) DK3318881T3 (enExample)
ES (2) ES2820361T3 (enExample)
IL (2) IL229607B (enExample)
NO (1) NO2718725T3 (enExample)
PL (2) PL3318881T3 (enExample)
PT (2) PT3318881T (enExample)
RU (1) RU2666952C2 (enExample)
WO (1) WO2012167925A1 (enExample)

Families Citing this family (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
MX2015007494A (es) * 2012-12-11 2015-12-15 Centogene Ag Metodo para diagnosticar leucodistrofia metacromatica.
WO2015121855A1 (en) * 2014-02-11 2015-08-20 Yeda Research And Development Co. Ltd. Marker of neuropathic gaucher's disease and methods of use thereof
CN105463085A (zh) * 2015-12-11 2016-04-06 上海新培晶医学检验所有限公司 一种检测戈谢病gba基因突变的试剂盒及其检测方法
EP3264092A1 (en) * 2016-07-01 2018-01-03 Centogene AG Use of lyso-gb1 as druggable target
RU2629626C1 (ru) * 2016-10-05 2017-08-30 Федеральное государственное автономное учреждение "Научный центр здоровья детей" Министерства здравоохранения Российской Федерации (ФГАУ "НЦЗД" Минздрава России) Способ оценки эффективности лечения болезни Гоше у детей
CA3201604A1 (en) 2020-12-08 2022-06-16 Todd Frank OVOKAITYS Methods and systems for increased production of stem cells
IL317112A (en) * 2022-06-01 2025-01-01 Univ Antwerpen Method for detecting biomarkers of lysosomal storage disease and kits for performing the method
WO2024211616A1 (en) * 2023-04-04 2024-10-10 Ovokaitys Todd Frank Methods and systems for improved therapies of genetic diseases using photo-activated allogenic stem cells

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
UA63743A (en) * 2003-06-09 2004-01-15 Kyiv P Shupyk Medical Academy Method for diagnosing gaucher disease
WO2008134628A2 (en) * 2007-04-26 2008-11-06 Amicus Therapeutics, Inc. Dosing regimens for the treatment of lysosomal storage diseases using pharmacological chaperones

Family Cites Families (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5236838A (en) 1988-12-23 1993-08-17 Genzyme Corporation Enzymatically active recombinant glucocerebrosidase
EP1528056A1 (en) * 2003-10-29 2005-05-04 Academisch Ziekenhuis bij de Universiteit van Amsterdam Deoxynojirimycin analogues and their uses as glucosylceramidase inhibitors
ES2485369T3 (es) 2005-06-08 2014-08-13 Amicus Therapeutics, Inc. Tratamiento de trastornos del SNC asociados con mutaciones en genes que codifican enzimas lisosómicas
DK2040548T3 (da) * 2006-06-23 2012-08-13 Amicus Therapeutics Inc Fremgangsmåde til behandling af neurologiske forstyrrelser ved forøgelse af aktiviteten af beta-glucocerebrosidase
MX2009011055A (es) 2007-04-13 2010-01-13 Amicus Therapeutics Inc Tratamiento de la enfermedad de gaucher con chaperonas farmacologicas especificas y supervision del tratamiento utilizando marcadores sustitutos.
CN104383556B (zh) * 2007-05-16 2018-06-05 布里格姆妇女医院 突触核蛋白病的治疗
AU2009314447A1 (en) * 2008-11-14 2010-05-20 Neuraltus Pharmaceuticals, Inc. Compositions and methods for the treatment of altered alpha-synuclein function

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
UA63743A (en) * 2003-06-09 2004-01-15 Kyiv P Shupyk Medical Academy Method for diagnosing gaucher disease
WO2008134628A2 (en) * 2007-04-26 2008-11-06 Amicus Therapeutics, Inc. Dosing regimens for the treatment of lysosomal storage diseases using pharmacological chaperones

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
AURAY-BLAIS C., et al. How well does urinary lyso-Gb3 function as a biomarker in Fabry disease? // Clin. Chim. Acta., 2010, V.411, pp.1906-1914. *

Also Published As

Publication number Publication date
RU2018129872A3 (enExample) 2021-11-08
IL260078A (en) 2018-07-31
EP3742168A1 (en) 2020-11-25
CN103582818A (zh) 2014-02-12
JP6120832B2 (ja) 2017-04-26
IL229607A0 (en) 2014-01-30
BR112013031431A2 (pt) 2016-12-13
RU2013158667A (ru) 2015-07-20
AU2017232226B2 (en) 2019-12-19
US20140187439A1 (en) 2014-07-03
US20180259538A1 (en) 2018-09-13
PT2718725T (pt) 2018-03-07
PL3318881T3 (pl) 2021-02-08
NO2718725T3 (enExample) 2018-05-12
ES2659753T3 (es) 2018-03-19
JP2017161528A (ja) 2017-09-14
CA2837609C (en) 2023-04-18
EP2718725B1 (en) 2017-12-13
BR112013031431B1 (pt) 2023-02-07
AU2012266768B2 (en) 2017-06-29
CN103582818B (zh) 2018-06-05
JP2014517308A (ja) 2014-07-17
RU2018129872A (ru) 2019-03-15
PL2718725T3 (pl) 2018-06-29
IL260078B (en) 2020-10-29
DK3318881T3 (da) 2020-09-28
EP2718725A1 (en) 2014-04-16
EP3318881B1 (en) 2020-07-15
EP3318881A1 (en) 2018-05-09
AU2017232226A1 (en) 2017-10-12
US10859580B2 (en) 2020-12-08
WO2012167925A1 (en) 2012-12-13
US20220011321A1 (en) 2022-01-13
CA2837609A1 (en) 2012-12-13
IL229607B (en) 2018-07-31
PT3318881T (pt) 2020-09-16
JP6514256B2 (ja) 2019-05-15
US11092609B2 (en) 2021-08-17
DK2718725T3 (en) 2018-03-26
ES2820361T3 (es) 2021-04-20
EP2533051A1 (en) 2012-12-12

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Effective date: 20201118