학술논문
'학술논문'
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Larsson Gothe, Mats, Composer; Tarkiainen, Outi, Composer; Bjarnason, Daníel, Composer; Hazama, Miho, Composer; Ratkje, Maja Solveig Kjelstrup, Composer
Academic Journal
Castro JTS; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Anestesiologia, Oncologia e Radiologia, Campinas SP, Brazil.; Saab CL; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Anestesiologia, Oncologia e Radiologia, Campinas SP, Brazil.; Souto MPA; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Clínica Médica, Campinas SP, Brazil.; Ortolam JG; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Anestesiologia, Oncologia e Radiologia, Campinas SP, Brazil.; Steiner CE; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Medicina Translacional , Campinas SP, Brazil.; Rezende TJR; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brazil.; Reis F; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Anestesiologia, Oncologia e Radiologia, Campinas SP, Brazil.
Publisher: Thieme Country of Publication: Germany NLM ID: 0125444 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1678-4227 (Electronic) Linking ISSN: 0004282X NLM ISO Abbreviation: Arq Neuropsiquiatr Subsets: MEDLINE
Report
Rizzo WB. Sjogren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency. Mol Genet Metab. 2007 Jan;90(1):1-9. doi: 10.1016/j.ymgme.2006.08.006. Epub 2006 Sep 22.
Rizzo WB. Genetics and prospective therapeutic targets for Sjogren-Larsson Syndrome. Expert Opin Orphan Drugs. 2016 Apr;4(4):395-406. doi: 10.1517/21678707.2016.1154453. Epub 2016 Mar 10.
Rizzo WB, S'aulis D, Dorwart E, Bailey Z. Sjogren-Larsson syndrome: A biochemical rationale for using aldehyde-reactive therapeutic agents. Mol Genet Metab Rep. 2021 Dec 23;30:100839. doi: 10.1016/j.ymgmr.2021.100839. eCollection 2022 Mar.
An Open-Label, Phase 1/2, Single-Site Study of the Safety, Biochemical Efficacy, and Exploratory Clinical Effects of Oral ADX-629 in Subjects With Sjögren-Larsson Syndrome
Rizzo WB. Genetics and prospective therapeutic targets for Sjogren-
Rizzo WB, S'aulis D, Dorwart E, Bailey Z. Sjogren-
An Open-Label, Phase 1/2, Single-Site Study of the Safety, Biochemical Efficacy, and Exploratory Clinical Effects of Oral ADX-629 in Subjects With Sjögren-
Academic Journal
Vaz FM; Amsterdam UMC location University of Amsterdam, Departments of Laboratory Medicine and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn errors of metabolism, Amsterdam, the Netherlands; Core Facility Metabolomics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands. Electronic address: f.m.vaz@amsterdamumc.nl.; Staps P; Department of Pediatric Neurology, Radboud University Medical Center, Amalia Children's Hospital, Donders Institute for Brain Cognition and Behaviour, Nijmegen, the Netherlands.; van Klinken JB; Amsterdam UMC location University of Amsterdam, Departments of Laboratory Medicine and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Meibergdreef 9, Amsterdam, the Netherlands; Core Facility Metabolomics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.; van Lenthe H; Amsterdam UMC location University of Amsterdam, Departments of Laboratory Medicine and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn errors of metabolism, Amsterdam, the Netherlands; Core Facility Metabolomics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands.; Vervaart M; Amsterdam UMC location University of Amsterdam, Departments of Laboratory Medicine and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn errors of metabolism, Amsterdam, the Netherlands; Core Facility Metabolomics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands.; Wanders RJA; Amsterdam UMC location University of Amsterdam, Departments of Laboratory Medicine and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn errors of metabolism, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands.; Pras-Raves ML; Amsterdam UMC location University of Amsterdam, Departments of Laboratory Medicine and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Meibergdreef 9, Amsterdam, the Netherlands; Core Facility Metabolomics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands; Bioinformatics Laboratory, Department of Epidemiology & Data Science, Amsterdam Public Health Research Institute, Amsterdam UMC, University of Amsterdam, the Netherlands.; van Weeghel M; Amsterdam UMC location University of Amsterdam, Departments of Laboratory Medicine and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn errors of metabolism, Amsterdam, the Netherlands; Core Facility Metabolomics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands.; Salomons GS; Amsterdam UMC location University of Amsterdam, Departments of Laboratory Medicine and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn errors of metabolism, Amsterdam, the Netherlands; Core Facility Metabolomics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands.; Ferdinandusse S; Amsterdam UMC location University of Amsterdam, Departments of Laboratory Medicine and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn errors of metabolism, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands.; Wevers RA; United for Metabolic Diseases, the Netherlands; Department of Human Genetics, Donders Institute for Brain Cognition and Behaviour, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, the Netherlands.; Willemsen MAAP; United for Metabolic Diseases, the Netherlands; Department of Pediatric Neurology, Radboud University Medical Center, Amalia Children's Hospital, Donders Institute for Brain Cognition and Behaviour, Nijmegen, the Netherlands.
Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101731727 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-2618 (Electronic) Linking ISSN: 13881981 NLM ISO Abbreviation: Biochim Biophys Acta Mol Cell Biol Lipids Subsets: MEDLINE
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[검색어] Larsson
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