MX2017016425A - Terapia con desoxinucleosidos para enfermedades generadas por grupos de nucleotidos desequilibrados, inclusive sindromes de agotamiento del adn mitocondrial. - Google Patents
Terapia con desoxinucleosidos para enfermedades generadas por grupos de nucleotidos desequilibrados, inclusive sindromes de agotamiento del adn mitocondrial.Info
- Publication number
- MX2017016425A MX2017016425A MX2017016425A MX2017016425A MX2017016425A MX 2017016425 A MX2017016425 A MX 2017016425A MX 2017016425 A MX2017016425 A MX 2017016425A MX 2017016425 A MX2017016425 A MX 2017016425A MX 2017016425 A MX2017016425 A MX 2017016425A
- Authority
- MX
- Mexico
- Prior art keywords
- mitochondrial dna
- dna depletion
- nucleotide pools
- diseases caused
- administration
- Prior art date
Links
- 201000002697 mitochondrial DNA depletion syndrome Diseases 0.000 title abstract 3
- 239000002773 nucleotide Substances 0.000 title abstract 3
- 125000003729 nucleotide group Chemical group 0.000 title abstract 3
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 title abstract 2
- 201000010099 disease Diseases 0.000 title 1
- 238000002560 therapeutic procedure Methods 0.000 title 1
- IQFYYKKMVGJFEH-XLPZGREQSA-N Thymidine Chemical compound O=C1NC(=O)C(C)=CN1[C@@H]1O[C@H](CO)[C@@H](O)C1 IQFYYKKMVGJFEH-XLPZGREQSA-N 0.000 abstract 3
- 102100027624 Thymidine kinase 2, mitochondrial Human genes 0.000 abstract 3
- 238000011422 pharmacological therapy Methods 0.000 abstract 3
- 108010036893 thymidine kinase 2 Proteins 0.000 abstract 3
- 230000007812 deficiency Effects 0.000 abstract 2
- 239000000203 mixture Substances 0.000 abstract 2
- CKTSBUTUHBMZGZ-SHYZEUOFSA-N 2'‐deoxycytidine Chemical compound O=C1N=C(N)C=CN1[C@@H]1O[C@H](CO)[C@@H](O)C1 CKTSBUTUHBMZGZ-SHYZEUOFSA-N 0.000 abstract 1
- CKTSBUTUHBMZGZ-UHFFFAOYSA-N Deoxycytidine Natural products O=C1N=C(N)C=CN1C1OC(CO)C(O)C1 CKTSBUTUHBMZGZ-UHFFFAOYSA-N 0.000 abstract 1
- 208000026350 Inborn Genetic disease Diseases 0.000 abstract 1
- 208000035475 disorder Diseases 0.000 abstract 1
- 208000016361 genetic disease Diseases 0.000 abstract 1
Classifications
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/33—Heterocyclic compounds
- A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
- A61K31/495—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with two or more nitrogen atoms as the only ring heteroatoms, e.g. piperazine or tetrazines
- A61K31/505—Pyrimidines; Hydrogenated pyrimidines, e.g. trimethoprim
- A61K31/513—Pyrimidines; Hydrogenated pyrimidines, e.g. trimethoprim having oxo groups directly attached to the heterocyclic ring, e.g. cytosine
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/70—Carbohydrates; Sugars; Derivatives thereof
- A61K31/7042—Compounds having saccharide radicals and heterocyclic rings
- A61K31/7052—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides
- A61K31/706—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom
- A61K31/7064—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines
- A61K31/7068—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines having oxo groups directly attached to the pyrimidine ring, e.g. cytidine, cytidylic acid
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/70—Carbohydrates; Sugars; Derivatives thereof
- A61K31/7042—Compounds having saccharide radicals and heterocyclic rings
- A61K31/7052—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides
- A61K31/706—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom
- A61K31/7064—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines
- A61K31/7068—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines having oxo groups directly attached to the pyrimidine ring, e.g. cytidine, cytidylic acid
- A61K31/7072—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines having oxo groups directly attached to the pyrimidine ring, e.g. cytidine, cytidylic acid having two oxo groups directly attached to the pyrimidine ring, e.g. uridine, uridylic acid, thymidine, zidovudine
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/70—Carbohydrates; Sugars; Derivatives thereof
- A61K31/7042—Compounds having saccharide radicals and heterocyclic rings
- A61K31/7052—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides
- A61K31/706—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom
- A61K31/7064—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines
- A61K31/7076—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines containing purines, e.g. adenosine, adenylic acid
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
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- A61K31/00—Medicinal preparations containing organic active ingredients
- A61K31/70—Carbohydrates; Sugars; Derivatives thereof
- A61K31/7042—Compounds having saccharide radicals and heterocyclic rings
- A61K31/7052—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides
- A61K31/706—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom
- A61K31/7064—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines
- A61K31/7076—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines containing purines, e.g. adenosine, adenylic acid
- A61K31/708—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines containing purines, e.g. adenosine, adenylic acid having oxo groups directly attached to the purine ring system, e.g. guanosine, guanylic acid
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- A—HUMAN NECESSITIES
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- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K45/00—Medicinal preparations containing active ingredients not provided for in groups A61K31/00 - A61K41/00
- A61K45/06—Mixtures of active ingredients without chemical characterisation, e.g. antiphlogistics and cardiaca
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- 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
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- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K9/00—Medicinal preparations characterised by special physical form
- A61K9/0012—Galenical forms characterised by the site of application
- A61K9/0053—Mouth and digestive tract, i.e. intraoral and peroral administration
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P21/00—Drugs for disorders of the muscular or neuromuscular system
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P43/00—Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
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- 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
- C12Q1/6813—Hybridisation assays
- C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
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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
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K2300/00—Mixtures or combinations of active ingredients, wherein at least one active ingredient is fully defined in groups A61K31/00 - A61K41/00
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- Life Sciences & Earth Sciences (AREA)
- Chemical & Material Sciences (AREA)
- General Health & Medical Sciences (AREA)
- Medicinal Chemistry (AREA)
- Veterinary Medicine (AREA)
- Public Health (AREA)
- Animal Behavior & Ethology (AREA)
- Pharmacology & Pharmacy (AREA)
- Epidemiology (AREA)
- Molecular Biology (AREA)
- Engineering & Computer Science (AREA)
- Organic Chemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
- General Chemical & Material Sciences (AREA)
- Neurology (AREA)
- Physical Education & Sports Medicine (AREA)
- Orthopedic Medicine & Surgery (AREA)
- Biotechnology (AREA)
- Genetics & Genomics (AREA)
- Immunology (AREA)
- Nutrition Science (AREA)
- Physiology (AREA)
- Biomedical Technology (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Analytical Chemistry (AREA)
- Zoology (AREA)
- Hematology (AREA)
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Abstract
La invención se relaciona, en términos generales, con una terapia farmacológica para enfermedades genéticas humanas, específicamente aquellas caracterizadas por grupos de nucleótidos desequilibrados, más específicamente síndromes de agotamiento del ADN mitocondrial y más específicamente, la deficiencia de timidina cinasa 2 (TK2). La terapia farmacológica implica la administración de al menos un desoxinucleósido, o mezclas de estos. Para el tratamiento de la deficiencia de TK2, la terapia farmacológica implica la administración de desoxitimidina (dT) o desoxicitidina (dC) o mezclas de estas. Esta administración de desoxinucleósidos es aplicable a otros trastornos de grupos de nucleótidos desequilibrados, especialmente aquellos que se encuentran en el síndrome de agotamiento del ADN mitocondrial.
Applications Claiming Priority (2)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US201562180914P | 2015-06-17 | 2015-06-17 | |
PCT/US2016/038110 WO2016205671A1 (en) | 2015-06-17 | 2016-06-17 | Deoxynucleoside therapy for diseases caused by unbalanced nucleotide pools including mitochondrial dna depletion syndromes |
Publications (1)
Publication Number | Publication Date |
---|---|
MX2017016425A true MX2017016425A (es) | 2018-12-11 |
Family
ID=57546446
Family Applications (2)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
MX2017016425A MX2017016425A (es) | 2015-06-17 | 2016-06-17 | Terapia con desoxinucleosidos para enfermedades generadas por grupos de nucleotidos desequilibrados, inclusive sindromes de agotamiento del adn mitocondrial. |
MX2020000269A MX2020000269A (es) | 2015-06-17 | 2016-06-17 | Terapia con desoxinucleósidos para enfermedades generadas por grupos de nucleótidos desequilibrados, inclusive síndromes de agotamiento del adn mitocondrial. |
Family Applications After (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
MX2020000269A MX2020000269A (es) | 2015-06-17 | 2016-06-17 | Terapia con desoxinucleósidos para enfermedades generadas por grupos de nucleótidos desequilibrados, inclusive síndromes de agotamiento del adn mitocondrial. |
Country Status (23)
Country | Link |
---|---|
US (4) | US10471087B2 (es) |
EP (3) | EP3569236A1 (es) |
JP (3) | JP6599484B2 (es) |
KR (2) | KR20180039624A (es) |
CN (2) | CN116726035A (es) |
AU (3) | AU2016280293B2 (es) |
BR (2) | BR122020021913B1 (es) |
CA (1) | CA2989653A1 (es) |
CY (2) | CY1122605T1 (es) |
DK (2) | DK3505174T3 (es) |
ES (2) | ES2808148T3 (es) |
HK (1) | HK1252133A1 (es) |
HR (2) | HRP20191794T1 (es) |
HU (2) | HUE046399T2 (es) |
IL (3) | IL275256B2 (es) |
LT (2) | LT3310362T (es) |
MX (2) | MX2017016425A (es) |
PL (2) | PL3310362T3 (es) |
PT (2) | PT3505174T (es) |
RS (2) | RS59724B1 (es) |
RU (2) | RU2721492C2 (es) |
SI (2) | SI3310362T1 (es) |
WO (1) | WO2016205671A1 (es) |
Families Citing this family (18)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US10292996B2 (en) | 2015-03-26 | 2019-05-21 | The Trustees Of Columbia University In The City Of New York | Deoxyribonucleoside monophospate bypass therapy for mitochondrial DNA depletion syndrome |
RU2721492C2 (ru) * | 2015-06-17 | 2020-05-19 | Зе Трастис Оф Коламбия Юниверсити Ин Зе Сити Оф Нью-Йорк | Дезоксинуклеозидная терапия заболеваний, вызванных несбалансированными пулами нуклеотидов, в том числе синдромов истощения митохондриальной днк |
JP6893213B2 (ja) | 2015-12-22 | 2021-06-23 | ゾゲニクス インターナショナル リミテッド | フェンフルラミン組成物およびその調製法 |
JP2019507111A (ja) | 2015-12-22 | 2019-03-14 | ゾゲニクス インターナショナル リミテッド | 代謝抵抗性フェンフルラミン類縁体およびその使用法 |
CA3032996A1 (en) | 2016-08-24 | 2018-03-01 | Zogenix International Limited | Formulation for inhibiting formation of 5-ht 2b agonists and methods of using same |
US11649442B2 (en) | 2017-09-08 | 2023-05-16 | The Regents Of The University Of California | RNA-guided endonuclease fusion polypeptides and methods of use thereof |
US10682317B2 (en) | 2017-09-26 | 2020-06-16 | Zogenix International Limited | Ketogenic diet compatible fenfluramine formulation |
BR112020020804A2 (pt) * | 2018-04-12 | 2021-01-12 | Modis Therapeutics Inc. | Pró-fármacos de desoxinucleosídeos para tratamento de doenças causadas por agrupamentos de nucleotídeos não balanceados |
EP3790537A1 (en) | 2018-05-11 | 2021-03-17 | Zogenix International Limited | Compositions and methods for treating seizure-induced sudden death |
AU2020334060A1 (en) * | 2019-08-19 | 2022-03-24 | Zogenix, Inc. | Polymorphic forms of deoxycytidine, compositions comprising the same and uses |
CA3146835A1 (en) * | 2019-09-05 | 2021-03-11 | Mitorainbow Therapeutics, Inc. | Treating mitochondrial dna depletion disorders |
WO2021188840A1 (en) | 2020-03-19 | 2021-09-23 | Rewrite Therapeutics, Inc. | Methods and compositions for directed genome editing |
US11612574B2 (en) | 2020-07-17 | 2023-03-28 | Zogenix International Limited | Method of treating patients infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) |
US20220096514A1 (en) * | 2020-09-29 | 2022-03-31 | Zogenix International Limited | Methods of treating thymidine kinase 2 deficiency by administering deoxycytidine and deoxythymidine |
EP4268829A1 (en) * | 2020-12-28 | 2023-11-01 | Yamasa Corporation | Muscular atrophy inhibitor and method for inhibiting muscular atrophy |
WO2022204555A1 (en) * | 2021-03-26 | 2022-09-29 | Zogenix Mds, Inc. | Aqueous solutions containing purines and pyrimidines and uses thereof |
WO2022266237A1 (en) * | 2021-06-18 | 2022-12-22 | Zogenix Mds, Inc. | Prodrugs of deoxynucleosides for treatment of mitochondrial diseases caused by unbalanced nucleotide pools |
US20240016938A1 (en) * | 2022-07-12 | 2024-01-18 | Zogenix Mds, Inc. | Methods for increasing the bioavailability of nucleoside medicinal agents |
Family Cites Families (7)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
RU2300381C2 (ru) * | 1998-08-10 | 2007-06-10 | Айденикс (Кайман) Лимитед | β-L-2'-ДЕЗОКСИНУКЛЕОЗИДЫ ДЛЯ ЛЕЧЕНИЯ ГЕПАТИТА В |
KR100879559B1 (ko) * | 1999-02-23 | 2009-01-22 | 더 리젠츠 오브 더 유니버시티 오브 캘리포니아 | 미토콘드리아 장애의 치료 또는 예방용 제약조성물 |
ES2227203T3 (es) * | 2000-05-26 | 2005-04-01 | Idenix (Cayman) Limited | Metodos para tratar la infeccion por el virus de la hepatitis delta con beta-1-2'-desoxinucleosidos. |
WO2012125848A2 (en) * | 2011-03-16 | 2012-09-20 | Baylor College Of Medicine | A method for comprehensive sequence analysis using deep sequencing technology |
US10292996B2 (en) | 2015-03-26 | 2019-05-21 | The Trustees Of Columbia University In The City Of New York | Deoxyribonucleoside monophospate bypass therapy for mitochondrial DNA depletion syndrome |
US11337980B2 (en) * | 2015-06-05 | 2022-05-24 | Fundació Hospital Universitari Vall D'hebron-Institut De Recerca | Treatment of mitochondrial diseases |
RU2721492C2 (ru) * | 2015-06-17 | 2020-05-19 | Зе Трастис Оф Коламбия Юниверсити Ин Зе Сити Оф Нью-Йорк | Дезоксинуклеозидная терапия заболеваний, вызванных несбалансированными пулами нуклеотидов, в том числе синдромов истощения митохондриальной днк |
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2016
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- 2016-06-17 PT PT168125375T patent/PT3310362T/pt unknown
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2020
- 2020-06-09 IL IL275255A patent/IL275255B/en active IP Right Grant
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- 2020-06-17 AU AU2020204042A patent/AU2020204042B2/en active Active
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2021
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2023
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