ES2751480T3 - Procedimiento para la detección de anormalidades en hemoglobina - Google Patents
Procedimiento para la detección de anormalidades en hemoglobina Download PDFInfo
- Publication number
- ES2751480T3 ES2751480T3 ES15760235T ES15760235T ES2751480T3 ES 2751480 T3 ES2751480 T3 ES 2751480T3 ES 15760235 T ES15760235 T ES 15760235T ES 15760235 T ES15760235 T ES 15760235T ES 2751480 T3 ES2751480 T3 ES 2751480T3
- Authority
- ES
- Spain
- Prior art keywords
- sample
- globin
- mass
- mass spectrometry
- hemoglobinopathy
- 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
Links
- 238000000034 method Methods 0.000 title claims abstract description 37
- 108010054147 Hemoglobins Proteins 0.000 title description 17
- 102000001554 Hemoglobins Human genes 0.000 title description 17
- 238000001514 detection method Methods 0.000 title description 3
- 230000005856 abnormality Effects 0.000 title description 2
- 108060003196 globin Proteins 0.000 claims abstract description 87
- 102000018146 globin Human genes 0.000 claims abstract description 85
- 210000004369 blood Anatomy 0.000 claims abstract description 58
- 239000008280 blood Substances 0.000 claims abstract description 58
- 238000001228 spectrum Methods 0.000 claims abstract description 47
- 208000034737 hemoglobinopathy Diseases 0.000 claims abstract description 40
- 238000001840 matrix-assisted laser desorption--ionisation time-of-flight mass spectrometry Methods 0.000 claims abstract description 16
- 150000002500 ions Chemical class 0.000 claims abstract description 15
- 238000004949 mass spectrometry Methods 0.000 claims abstract description 15
- 239000011159 matrix material Substances 0.000 claims abstract description 11
- 238000003795 desorption Methods 0.000 claims abstract description 4
- 238000000050 ionisation spectroscopy Methods 0.000 claims abstract description 3
- 208000002903 Thalassemia Diseases 0.000 claims description 32
- WSFSSNUMVMOOMR-UHFFFAOYSA-N Formaldehyde Chemical compound O=C WSFSSNUMVMOOMR-UHFFFAOYSA-N 0.000 claims description 24
- 230000003595 spectral effect Effects 0.000 claims description 24
- 208000007056 sickle cell anemia Diseases 0.000 claims description 17
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 claims description 13
- 201000010099 disease Diseases 0.000 claims description 11
- 238000004458 analytical method Methods 0.000 claims description 10
- 230000002934 lysing effect Effects 0.000 claims description 8
- 238000007619 statistical method Methods 0.000 claims description 8
- -1 Hb Lepore Proteins 0.000 claims description 2
- 108010009923 Hemoglobin Constant Spring Proteins 0.000 claims description 2
- 101000990261 Zea mays Non-symbiotic hemoglobin Proteins 0.000 claims description 2
- 108010079997 hemoglobin Korle Proteins 0.000 claims description 2
- 108010038707 hemoglobin Sealy Proteins 0.000 claims description 2
- 239000000523 sample Substances 0.000 description 65
- 108090000623 proteins and genes Proteins 0.000 description 26
- DTQVDTLACAAQTR-UHFFFAOYSA-N Trifluoroacetic acid Chemical compound OC(=O)C(F)(F)F DTQVDTLACAAQTR-UHFFFAOYSA-N 0.000 description 20
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- WEVYAHXRMPXWCK-UHFFFAOYSA-N Acetonitrile Chemical compound CC#N WEVYAHXRMPXWCK-UHFFFAOYSA-N 0.000 description 12
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- 239000002253 acid Substances 0.000 description 7
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- 201000006288 alpha thalassemia Diseases 0.000 description 6
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- XLYOFNOQVPJJNP-UHFFFAOYSA-N water Chemical compound O XLYOFNOQVPJJNP-UHFFFAOYSA-N 0.000 description 6
- 239000003431 cross linking reagent Substances 0.000 description 5
- KSEBMYQBYZTDHS-HWKANZROSA-M (E)-Ferulic acid Natural products COC1=CC(\C=C\C([O-])=O)=CC=C1O KSEBMYQBYZTDHS-HWKANZROSA-M 0.000 description 4
- IJGRMHOSHXDMSA-UHFFFAOYSA-N Atomic nitrogen Chemical compound N#N IJGRMHOSHXDMSA-UHFFFAOYSA-N 0.000 description 4
- KRKNYBCHXYNGOX-UHFFFAOYSA-K Citrate Chemical compound [O-]C(=O)CC(O)(CC([O-])=O)C([O-])=O KRKNYBCHXYNGOX-UHFFFAOYSA-K 0.000 description 4
- 108091005902 Hemoglobin subunit alpha Proteins 0.000 description 4
- 102100021519 Hemoglobin subunit beta Human genes 0.000 description 4
- 108091005904 Hemoglobin subunit beta Proteins 0.000 description 4
- FAPWRFPIFSIZLT-UHFFFAOYSA-M Sodium chloride Chemical compound [Na+].[Cl-] FAPWRFPIFSIZLT-UHFFFAOYSA-M 0.000 description 4
- 230000015572 biosynthetic process Effects 0.000 description 4
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- 235000001785 ferulic acid Nutrition 0.000 description 4
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- 229940114124 ferulic acid Drugs 0.000 description 4
- KSEBMYQBYZTDHS-UHFFFAOYSA-N ferulic acid Natural products COC1=CC(C=CC(O)=O)=CC=C1O KSEBMYQBYZTDHS-UHFFFAOYSA-N 0.000 description 4
- 238000000816 matrix-assisted laser desorption--ionisation Methods 0.000 description 4
- 238000010606 normalization Methods 0.000 description 4
- 230000035935 pregnancy Effects 0.000 description 4
- 239000011780 sodium chloride Substances 0.000 description 4
- QURCVMIEKCOAJU-UHFFFAOYSA-N trans-isoferulic acid Natural products COC1=CC=C(C=CC(O)=O)C=C1O QURCVMIEKCOAJU-UHFFFAOYSA-N 0.000 description 4
- 208000000859 Sickle cell trait Diseases 0.000 description 3
- 101150087698 alpha gene Proteins 0.000 description 3
- 239000012503 blood component Substances 0.000 description 3
- 239000003085 diluting agent Substances 0.000 description 3
- 230000004927 fusion Effects 0.000 description 3
- 150000003278 haem Chemical class 0.000 description 3
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- 239000000243 solution Substances 0.000 description 3
- 238000003786 synthesis reaction Methods 0.000 description 3
- XDORCZQWKALZAH-UHFFFAOYSA-N 3-(4-cyanophenyl)-2-hydroxyprop-2-enoic acid Chemical compound OC(=O)C(O)=CC1=CC=C(C#N)C=C1 XDORCZQWKALZAH-UHFFFAOYSA-N 0.000 description 2
- 101100263837 Bovine ephemeral fever virus (strain BB7721) beta gene Proteins 0.000 description 2
- 101100316840 Enterobacteria phage P4 Beta gene Proteins 0.000 description 2
- 108010044495 Fetal Hemoglobin Proteins 0.000 description 2
- 102100027685 Hemoglobin subunit alpha Human genes 0.000 description 2
- 241000282412 Homo Species 0.000 description 2
- 208000006031 Hydrops Fetalis Diseases 0.000 description 2
- XEEYBQQBJWHFJM-UHFFFAOYSA-N Iron Chemical compound [Fe] XEEYBQQBJWHFJM-UHFFFAOYSA-N 0.000 description 2
- 229910000831 Steel Inorganic materials 0.000 description 2
- 230000001594 aberrant effect Effects 0.000 description 2
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- 238000000528 statistical test Methods 0.000 description 2
- 239000010959 steel Substances 0.000 description 2
- 210000000130 stem cell Anatomy 0.000 description 2
- 210000004291 uterus Anatomy 0.000 description 2
- 101150084750 1 gene Proteins 0.000 description 1
- 108010044267 Abnormal Hemoglobins Proteins 0.000 description 1
- 108020004705 Codon Proteins 0.000 description 1
- 102000018832 Cytochromes Human genes 0.000 description 1
- 108010052832 Cytochromes Proteins 0.000 description 1
- 108010068323 Hemoglobin E Proteins 0.000 description 1
- UFHFLCQGNIYNRP-UHFFFAOYSA-N Hydrogen Chemical compound [H][H] UFHFLCQGNIYNRP-UHFFFAOYSA-N 0.000 description 1
- 208000026350 Inborn Genetic disease Diseases 0.000 description 1
- 206010027540 Microcytosis Diseases 0.000 description 1
- 101150084044 P gene Proteins 0.000 description 1
- 208000001300 Perinatal Death Diseases 0.000 description 1
- 208000018525 Postpartum Hemorrhage Diseases 0.000 description 1
- 108091008109 Pseudogenes Proteins 0.000 description 1
- 102000057361 Pseudogenes Human genes 0.000 description 1
- 108010016797 Sickle Hemoglobin Proteins 0.000 description 1
- 206010041660 Splenomegaly Diseases 0.000 description 1
- 206010043391 Thalassaemia beta Diseases 0.000 description 1
- 208000034153 Thalassaemia trait Diseases 0.000 description 1
- 125000003275 alpha amino acid group Chemical group 0.000 description 1
- 108010053584 alpha-Globins Proteins 0.000 description 1
- 230000004075 alteration Effects 0.000 description 1
- 208000007502 anemia Diseases 0.000 description 1
- 238000003556 assay Methods 0.000 description 1
- QVGXLLKOCUKJST-UHFFFAOYSA-N atomic oxygen Chemical compound [O] QVGXLLKOCUKJST-UHFFFAOYSA-N 0.000 description 1
- 230000033228 biological regulation Effects 0.000 description 1
- 239000000090 biomarker Substances 0.000 description 1
- 210000001185 bone marrow Anatomy 0.000 description 1
- 238000005251 capillar electrophoresis Methods 0.000 description 1
- 238000004850 capillary HPLC Methods 0.000 description 1
- 210000000170 cell membrane Anatomy 0.000 description 1
- 230000001413 cellular effect Effects 0.000 description 1
- 239000013043 chemical agent Substances 0.000 description 1
- 239000003638 chemical reducing agent Substances 0.000 description 1
- 230000001684 chronic effect Effects 0.000 description 1
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- 238000011161 development Methods 0.000 description 1
- 238000003745 diagnosis Methods 0.000 description 1
- 230000029087 digestion Effects 0.000 description 1
- 239000012470 diluted sample Substances 0.000 description 1
- 208000035475 disorder Diseases 0.000 description 1
- 239000012153 distilled water Substances 0.000 description 1
- 231100001047 early fetal death Toxicity 0.000 description 1
- 238000001962 electrophoresis Methods 0.000 description 1
- 210000000267 erythroid cell Anatomy 0.000 description 1
- 230000012953 feeding on blood of other organism Effects 0.000 description 1
- 108091008053 gene clusters Proteins 0.000 description 1
- 208000016361 genetic disease Diseases 0.000 description 1
- 108010047389 hemoglobin D Proteins 0.000 description 1
- 208000007475 hemolytic anemia Diseases 0.000 description 1
- 125000005842 heteroatom Chemical group 0.000 description 1
- 238000004128 high performance liquid chromatography Methods 0.000 description 1
- 239000001257 hydrogen Substances 0.000 description 1
- 229910052739 hydrogen Inorganic materials 0.000 description 1
- 238000011534 incubation Methods 0.000 description 1
- 229910052742 iron Inorganic materials 0.000 description 1
- 150000002632 lipids Chemical class 0.000 description 1
- 210000004185 liver Anatomy 0.000 description 1
- 125000003588 lysine group Chemical group [H]N([H])C([H])([H])C([H])([H])C([H])([H])C([H])([H])C([H])(N([H])[H])C(*)=O 0.000 description 1
- 210000001161 mammalian embryo Anatomy 0.000 description 1
- 238000005259 measurement Methods 0.000 description 1
- 108020004707 nucleic acids Proteins 0.000 description 1
- 102000039446 nucleic acids Human genes 0.000 description 1
- 150000007523 nucleic acids Chemical class 0.000 description 1
- 230000003647 oxidation Effects 0.000 description 1
- 238000007254 oxidation reaction Methods 0.000 description 1
- 239000001301 oxygen Substances 0.000 description 1
- 229910052760 oxygen Inorganic materials 0.000 description 1
- 230000001575 pathological effect Effects 0.000 description 1
- 210000005259 peripheral blood Anatomy 0.000 description 1
- 239000011886 peripheral blood Substances 0.000 description 1
- 150000004032 porphyrins Chemical class 0.000 description 1
- 201000011461 pre-eclampsia Diseases 0.000 description 1
- 238000001556 precipitation Methods 0.000 description 1
- 239000002243 precursor Substances 0.000 description 1
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- 208000035203 thalassemia minor Diseases 0.000 description 1
- 208000012175 toxemia of pregnancy Diseases 0.000 description 1
- 238000012546 transfer Methods 0.000 description 1
- 210000001325 yolk sac Anatomy 0.000 description 1
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
- G01N33/68—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
- G01N33/72—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving blood pigments, e.g. haemoglobin, bilirubin or other porphyrins; involving occult blood
- G01N33/721—Haemoglobin
Landscapes
- Health & Medical Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Engineering & Computer Science (AREA)
- Molecular Biology (AREA)
- Hematology (AREA)
- Physics & Mathematics (AREA)
- Chemical & Material Sciences (AREA)
- Urology & Nephrology (AREA)
- Immunology (AREA)
- Biomedical Technology (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Bioinformatics & Computational Biology (AREA)
- Analytical Chemistry (AREA)
- Food Science & Technology (AREA)
- Biotechnology (AREA)
- Pathology (AREA)
- Microbiology (AREA)
- General Physics & Mathematics (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Cell Biology (AREA)
- Medicinal Chemistry (AREA)
- General Health & Medical Sciences (AREA)
- Biochemistry (AREA)
- Optics & Photonics (AREA)
- Biophysics (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Investigating Or Analysing Biological Materials (AREA)
- Other Investigation Or Analysis Of Materials By Electrical Means (AREA)
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| GBGB1415367.0A GB201415367D0 (en) | 2014-08-29 | 2014-08-29 | Methods for detecting abnormalities in haemoglobin |
| PCT/GB2015/052491 WO2016030688A1 (en) | 2014-08-29 | 2015-08-27 | Method for detecting abnormalities in hemoglobin |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| ES2751480T3 true ES2751480T3 (es) | 2020-03-31 |
Family
ID=51752371
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| ES15760235T Active ES2751480T3 (es) | 2014-08-29 | 2015-08-27 | Procedimiento para la detección de anormalidades en hemoglobina |
Country Status (10)
| Country | Link |
|---|---|
| US (1) | US10359431B2 (enExample) |
| EP (1) | EP3186640B1 (enExample) |
| JP (1) | JP2017525971A (enExample) |
| CN (1) | CN107110873B (enExample) |
| CY (1) | CY1122239T1 (enExample) |
| DK (1) | DK3186640T3 (enExample) |
| ES (1) | ES2751480T3 (enExample) |
| GB (1) | GB201415367D0 (enExample) |
| PT (1) | PT3186640T (enExample) |
| WO (1) | WO2016030688A1 (enExample) |
Families Citing this family (9)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| EP3555631A4 (en) * | 2016-12-19 | 2020-08-12 | The UAB Research Foundation | MASS SPECTROMETRY STANDARDS FOR HEMOGLOBIN BETA AND HEMOGLOBIN BETA SICKLE CELL DISEASE AND THEIR USES |
| WO2019022189A1 (ja) * | 2017-07-27 | 2019-01-31 | 国立大学法人九州大学 | グロビンタイピングペプチド |
| CN108062977A (zh) * | 2017-12-18 | 2018-05-22 | 广东祥岳生物技术有限公司 | 一种新生儿地中海贫血筛查结果自动判断系统 |
| CN110658252A (zh) * | 2019-10-01 | 2020-01-07 | 长沙湘华质谱医学科技有限公司 | 用于质谱诊断地中海贫血症的特征蛋白质谱模型及其用途 |
| CN110658251A (zh) * | 2019-10-01 | 2020-01-07 | 长沙湘华质谱医学科技有限公司 | 表征地中海贫血症的特征蛋白组合物或质谱模型的用途 |
| CN110632326A (zh) * | 2019-10-01 | 2019-12-31 | 北京毅新博创生物科技有限公司 | 用于质谱诊断地中海贫血症的特征蛋白标记组合物及其诊断产品 |
| CN111638261B (zh) * | 2020-04-17 | 2023-04-07 | 融智生物科技（青岛）有限公司 | 一种计算设备、存储介质和地中海贫血筛查装置及系统 |
| CN111948404B (zh) * | 2020-08-03 | 2023-04-07 | 融智生物科技（青岛）有限公司 | 用于筛查地中海贫血的特征蛋白标记组合物、质谱模型及其应用 |
| CN116203143B (zh) * | 2022-05-11 | 2024-01-05 | 重庆医科大学附属儿童医院 | 血红蛋白病的标志物组合物及其筛查试剂与应用 |
Family Cites Families (20)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US3492095A (en) * | 1967-10-05 | 1970-01-27 | Harold B Tillen | Product for and method of testing blood for the presence of hemoglobin s |
| US4847209A (en) | 1987-11-09 | 1989-07-11 | Miles Inc. | Latex agglutination immunoassay in the presence of hemoglobin |
| FR2821428B1 (fr) * | 2001-02-23 | 2004-08-06 | Abx Sa | Reactif et procede pour l'identification et le comptage de cellules biologiques |
| US20030003588A1 (en) * | 2001-06-28 | 2003-01-02 | Comper Wayne D. | Method for kidney disease detection by protein profiling |
| US20040171026A1 (en) | 2001-09-05 | 2004-09-02 | Hochstrasser Denis Francois | Diagnostic method for transmissible spongiform encephalopathies |
| FI20031370A0 (fi) * | 2003-09-23 | 2003-09-23 | Wallac Oy | Automaattinen hemoglobiinin määritysmenetelmä vastasyntyneiden seulontaan |
| EP1533617A1 (en) * | 2003-11-19 | 2005-05-25 | RMF Dictagene S.A. | Angiogenesis inhibiting molecules, their selection, production and their use in the treatment and diagnosis of cancer |
| TW200538738A (en) | 2004-02-20 | 2005-12-01 | Univ California | Molecular flux rates through critical pathways measured by stable isotope labeling in vivo, as biomarkers of drug action and disease activity |
| WO2005116607A1 (en) * | 2004-05-27 | 2005-12-08 | Monash University | A method for the rapid analysis of polypeptides |
| GB0502068D0 (en) * | 2005-02-01 | 2005-03-09 | King S College London | Screening method |
| WO2007117794A2 (en) | 2006-03-06 | 2007-10-18 | Government Of The United States Of America, Represented By The Secretary, Department Of Health And Human Services | Glycated peptides and methods of use |
| JP2007263896A (ja) * | 2006-03-29 | 2007-10-11 | Univ Nagoya | 肺癌患者の術後予後予測のための生物マーカー及びその方法 |
| WO2008011158A2 (en) * | 2006-07-21 | 2008-01-24 | Amgen Inc. | Method of detecting and/ or measuring hepcidin in a sample |
| US7951776B2 (en) | 2006-09-01 | 2011-05-31 | American Type Culture Collection | Methods for treatment of type 1 diabetes |
| US9250248B2 (en) | 2006-11-01 | 2016-02-02 | The Johns Hopkins University | Early detection of diabetes |
| JP2011515680A (ja) | 2008-03-17 | 2011-05-19 | ネルソン，ランドール，ダブリュ． | 糖尿病のためのバイオマーカーおよびアッセイ |
| WO2009144229A1 (en) | 2008-05-27 | 2009-12-03 | F. Hoffmann-La Roche Ag | Method for risk reduction in glycemic control |
| CA2765457A1 (en) | 2009-07-07 | 2011-01-13 | Uvic Industry Partnerships Inc. | Methods for early detection of blood disorders |
| SG195180A1 (en) * | 2011-05-31 | 2013-12-30 | Singapore Health Serv Pte Ltd | Method for detecting disease biomarkers |
| CN103278574B (zh) * | 2013-04-26 | 2014-12-10 | 首都医科大学附属北京朝阳医院 | 利用液相色谱串联三重四级杆质谱仪检测糖化血红蛋白的方法 |
-
2014
- 2014-08-29 GB GBGB1415367.0A patent/GB201415367D0/en not_active Ceased
-
2015
- 2015-08-27 WO PCT/GB2015/052491 patent/WO2016030688A1/en not_active Ceased
- 2015-08-27 JP JP2017511663A patent/JP2017525971A/ja active Pending
- 2015-08-27 DK DK15760235.0T patent/DK3186640T3/da active
- 2015-08-27 EP EP15760235.0A patent/EP3186640B1/en active Active
- 2015-08-27 PT PT157602350T patent/PT3186640T/pt unknown
- 2015-08-27 CN CN201580059324.5A patent/CN107110873B/zh active Active
- 2015-08-27 ES ES15760235T patent/ES2751480T3/es active Active
- 2015-08-27 US US15/506,730 patent/US10359431B2/en active Active
-
2019
- 2019-10-10 CY CY20191101062T patent/CY1122239T1/el unknown
Also Published As
| Publication number | Publication date |
|---|---|
| DK3186640T3 (da) | 2019-10-21 |
| CN107110873B (zh) | 2019-07-05 |
| GB201415367D0 (en) | 2014-10-15 |
| EP3186640A1 (en) | 2017-07-05 |
| US20180224462A1 (en) | 2018-08-09 |
| JP2017525971A (ja) | 2017-09-07 |
| US10359431B2 (en) | 2019-07-23 |
| WO2016030688A1 (en) | 2016-03-03 |
| CN107110873A (zh) | 2017-08-29 |
| EP3186640B1 (en) | 2019-07-24 |
| PT3186640T (pt) | 2019-10-30 |
| CY1122239T1 (el) | 2020-11-25 |
Similar Documents
| Publication | Publication Date | Title |
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