Zobrazeno 1 - 10
of 8 348
pro vyhledávání: '"Argininosuccinate lyase"'
Autor:
Jalil S; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Keskinen T; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Juutila J; Faculty of Biological and Environmental Sciences University of Helsinki, Helsinki, Finland; Institute of Biotechnology, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland., Sartori Maldonado R; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Euro L; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Suomalainen A; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Lapatto R; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland; New Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Kuuluvainen E; Faculty of Biological and Environmental Sciences University of Helsinki, Helsinki, Finland; Institute of Biotechnology, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland., Hietakangas V; Faculty of Biological and Environmental Sciences University of Helsinki, Helsinki, Finland; Institute of Biotechnology, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland., Otonkoski T; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland; New Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Hyvönen ME; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland; New Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Wartiovaara K; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland; Clinical Genetics, Helsinki University Hospital, Helsinki, Finland. Electronic address: kirmo.wartiovaara@helsinki.fi.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Apr 04; Vol. 111 (4), pp. 714-728.
Nitric oxide is required for lung alveolarization revealed by deficiency of argininosuccinate lyase.
Autor:
Jin Z; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States., Jiang MM; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2023 Dec 12; Vol. 33 (1), pp. 33-37.
Autor:
Duff C; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK. Electronic address: claire.duff@ucl.ac.uk., Islam M; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Gagliano O; Onyel Biotech S.r.l., Padova, PD, Italy; Department of Industrial Engineering, University of Padova, Padova, Italy; Veneto Institute of Molecular Medicine, Padova, Italy., Pramod H; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK; National Institute of Health Research, Great Ormond Street Biomedical Research Centre, London WC1N 1EH, UK., Rashidi H; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Kurian MA; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK; National Institute of Health Research, Great Ormond Street Biomedical Research Centre, London WC1N 1EH, UK., Gissen P; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK; National Institute of Health Research, Great Ormond Street Biomedical Research Centre, London WC1N 1EH, UK; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Baruteau J; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK; National Institute of Health Research, Great Ormond Street Biomedical Research Centre, London WC1N 1EH, UK; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
Publikováno v:
Stem cell research [Stem Cell Res] 2024 Apr; Vol. 76, pp. 103365. Date of Electronic Publication: 2024 Feb 28.
Autor:
Heng TYJ; Department of Paediatrics, KK Women's and Children's Hospital., Ow JR; Institute of Molecular and Cell Biology (IMCB), Agency for Science, Technology and Research (A*STAR)., Koh AL; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital.; SingHealth Duke-NUS Paediatric Academic Clinical Programme, Duke-NUS Medical School., Lim JSC; Biochemical Genetics and National Expanded Newborn Screening, Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital., Ong CBK; Department of Nutrition and Dietetics, KK Women's and Children's Hospital., Goh JCY; Division of Nursing - Nursing Clinical Services, KK Women's and Children's Hospital., Lim JY; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital., Chiou FK; SingHealth Duke-NUS Paediatric Academic Clinical Programme, Duke-NUS Medical School.; Gastroenterology, Hepatology & Nutrition Service, Department of Paediatrics, KK Women's and Children's Hospital., Jamuar SS; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital.; SingHealth Duke-NUS Paediatric Academic Clinical Programme, Duke-NUS Medical School.; SingHealth Duke-NUS Institute of Precision Medicine, National Heart Centre Singapore, Republic of Singapore.
Publikováno v:
Clinical dysmorphology [Clin Dysmorphol] 2024 Jan 01; Vol. 33 (1), pp. 43-49. Date of Electronic Publication: 2023 Oct 13.
Akademický článek
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Autor:
Karvelsson, Sigurdur Trausti1, Wang, Qiong1, Hilmarsdottir, Bylgja2, Sigurdsson, Arnar3, Moestue, Siver Andreas4,5, Mælandsmo, Gunhild Mari2, Halldorsson, Skarphedinn1,6, Gudmundsson, Steinn1,7, Rolfsson, Ottar1 ottarr@hi.is
Publikováno v:
NPJ Systems Biology & Applications. 9/17/2021, Vol. 7 Issue 1, p1-10. 10p.
Akademický článek
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Autor:
Claire Duff, Madeha Islam, Onelia Gagliano, Hema Pramod, Hassan Rashidi, Manju Kurian, Paul Gissen, Julien Baruteau
Publikováno v:
Stem Cell Research, Vol 76, Iss , Pp 103365- (2024)
Argininosuccinic aciduria (ASA) is a rare inherited metabolic disease caused by argininosuccinate lyase (ASL) deficiency. Patients with ASA present with hyperammonaemia due to an impaired urea cycle pathway in the liver, and systemic disease with epi
Externí odkaz:
https://doaj.org/article/d3fd767ff3ea4c0fb07289f442e5f9bd
Autor:
Öztürk, Ferdi1 ferdiozturk@uludag.edu.tr, Ünlü, Cansu Irmak1, Sarıcaoğlu, Hayriye1, Aydoğan, Kenan1, Erdöl, Şahin1,2
Publikováno v:
Indian Journal of Dermatology, Venereology & Leprology. Nov/Dec2023, Vol. 89 Issue 6, p3-5. 3p.
Akademický článek
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