KR102228367B1 - 산 스핑고미엘리나제 장애에 대한 마커 및 이의 용도 - Google Patents
산 스핑고미엘리나제 장애에 대한 마커 및 이의 용도 Download PDFInfo
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- KR102228367B1 KR102228367B1 KR1020167000011A KR20167000011A KR102228367B1 KR 102228367 B1 KR102228367 B1 KR 102228367B1 KR 1020167000011 A KR1020167000011 A KR 1020167000011A KR 20167000011 A KR20167000011 A KR 20167000011A KR 102228367 B1 KR102228367 B1 KR 102228367B1
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- G01N2333/00—Assays involving biological materials from specific organisms or of a specific nature
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- G01N2333/914—Hydrolases (3)
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- 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
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| MX392330B (es) * | 2009-08-28 | 2025-03-11 | Icahn School Med Mount Sinai | Uso farmacéutico de una esfingomielinasa ácida (asm) con aumento escalonado de la dosis para tratar la deficiencia de esfingomielinasa ácida. |
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| JP6984854B2 (ja) * | 2015-10-08 | 2021-12-22 | 国立大学法人千葉大学 | ニーマン・ピック病ｃ型を予防または治療するための医薬組成物 |
| IL272757B2 (en) * | 2017-08-24 | 2024-07-01 | Sanofi Sa | A recombinant human acid sphingomyelinase for use for treating an abnormal bone conditions, decreasing bone marrow burden and/or improving bone mineral density |
| WO2019070577A1 (en) | 2017-10-02 | 2019-04-11 | Denali Therapeutics Inc. | FUSION PROTEINS COMPRISING SUBSTITUTE ENZYM THERAPY ENZYMES |
| JP7568648B2 (ja) * | 2019-05-31 | 2024-10-16 | ジェンザイム・コーポレーション | 二次元ｌｃ－ｍｓ／ｍｓシステム |
| EP4562432A2 (en) * | 2022-07-28 | 2025-06-04 | Wylder Nation Foundation | Compositions and methods for diagnosing, treating, and preventing lysosomal storage diseases |
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| US4039388A (en) | 1976-06-04 | 1977-08-02 | The United States Of America As Represented By The Government | Diagnostic test for Niemann-Pick disease |
| US4082781A (en) | 1976-06-04 | 1978-04-04 | The United States Of America As Represented By The Department Of Health, Education And Welfare | Synthesis of 2-alkanoylamino-4-nitrophenyl phosphorylcholine-hydroxide |
| US5773278A (en) | 1991-05-03 | 1998-06-30 | Mount Sinai Medical Center | Acid sphingomyelinase gene |
| WO2002018539A2 (en) | 2000-08-25 | 2002-03-07 | Lysometrix Corporation | Method for assaying the activity of lysosomal enzymes |
| US7001994B2 (en) | 2001-01-18 | 2006-02-21 | Genzyme Corporation | Methods for introducing mannose 6-phosphate and other oligosaccharides onto glycoproteins |
| US7615224B2 (en) | 2004-12-02 | 2009-11-10 | Women's And Children's Hospital | Multiplex-bead complex for determination of lysosomal storage disorders |
| JP2006214731A (ja) | 2005-02-01 | 2006-08-17 | Institute Of Physical & Chemical Research | スフィンゴミエリンの検出方法 |
| US20090148877A1 (en) | 2005-12-15 | 2009-06-11 | The Research Foundation Of State University Of New York | Enzymatic methods for measuring plasma and tissue sphingomylelin and phosphatidylcholine |
| AR059089A1 (es) * | 2006-01-20 | 2008-03-12 | Genzyme Corp | Administracion intraventricular de una enzima para enfermedades de almacenamiento lisosomal |
| US8026099B2 (en) | 2007-07-26 | 2011-09-27 | Washington University | Lipid profile as a biomarker for early detection of neurological disorders |
| US8497122B2 (en) | 2008-04-11 | 2013-07-30 | Washington University | Biomarkers for Niemann-pick C disease and related disorders |
| MX392330B (es) * | 2009-08-28 | 2025-03-11 | Icahn School Med Mount Sinai | Uso farmacéutico de una esfingomielinasa ácida (asm) con aumento escalonado de la dosis para tratar la deficiencia de esfingomielinasa ácida. |
| JP2013002933A (ja) | 2011-06-16 | 2013-01-07 | Hitachi Plant Technologies Ltd | ３次元測位システム |
| ES2731920T3 (es) * | 2013-05-14 | 2019-11-19 | Centogene Ag | Método para el diagnóstico de la enfermedad de Niemann-Pick |
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Patent Citations (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2013072060A2 (en) | 2011-11-15 | 2013-05-23 | Centogene Gmbh | Method for the diagnosis of niemann-pick disease |
Non-Patent Citations (1)
| Title |
|---|
| Claire Rodriguez-Lafrasse et al., 'Sphingosylphosphorylcholine in Niemann-Pick Disease Brain: Accumulation in Type A But Not in Type B', Neurochemical Reserach, 1999, Vol. 24, pp 199-205. 1부.* |
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| BR112015030099B1 (pt) | Método in vitro para determinar a eficácia ou toxicidade de umaesfingomielinase ácida humana recombinante (rhasm) ou dose de rhasmmodificada para o tratamento de uma deficiência de esfingomielinase ácida(asmd) em um indivíduo |
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