Zobrazeno 1 - 10
of 641
pro vyhledávání: '"Guanidinoacetate N-Methyltransferase"'
Autor:
Goldstein J; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Thomas-Wilson A; New York Genome Center, New York, NY, USA., Groopman E; Children's National Hospital, 111 Michigan Ave NW, Washington, DC, USA., Aggarwal V; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Bianconi S; Kaiser Permanente, Southern California Permanente Group, CA, USA., Fernandez R; American College of Medical Genetics and Genomics, Bethesda, MD, USA., Hart K; Newborn Screening Program, Utah Public Health Laboratory, Department of Health and Human Services, Salt Lake City, UT, USA., Longo N; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA., Liang N; The Hospital for Sick Children, Toronto, Canada., Reich D; Newborn Screening Program, Utah Public Health Laboratory, Department of Health and Human Services, Salt Lake City, UT, USA., Wallis H; Association for Creatine Deficiencies, Carlsbad, CA, USA., Weaver M; American College of Medical Genetics and Genomics, Bethesda, MD, USA., Young S; Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Mercimek-Andrews S; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada. Electronic address: saadet@ualberta.ca.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108362. Date of Electronic Publication: 2024 Mar 02.
Autor:
Mustafa NM; Department of Biochemistry, University of Cambridge, Cambridge CB2 1GA, UK; Department of Chemical Pathology, Faculty of Medicine, Cairo University, Egypt. Electronic address: naira.mustafa@kasralainy.edu.eg., Elabd NE; Department of Chemical Pathology, Faculty of Medicine, Cairo University, Egypt., Selim LA; Department of Paediatrics, Neurology and Metabolic Division, Faculty of Medicine, Cairo University, Egypt; Inherited Metabolic Disease Unit, Centre of Social and Preventive Medicine, Cairo University, Egypt., Abdou DM; Department of Chemical Pathology, Faculty of Medicine, Cairo University, Egypt., Griffin JL; Department of Biochemistry, University of Cambridge, Cambridge CB2 1GA, UK; Biomolecular Medicine, Department of Metabolism, Digestion and Reproduction, Imperial College, London, UK; The Rowett Institute, Foresterhill Campus, University of Aberdeen, Aberdeen, UK.
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2022 Nov 01; Vol. 536, pp. 70-76. Date of Electronic Publication: 2022 Sep 18.
Autor:
Yıldız Y; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Turkey. Electronic address: yilmaz.yildiz@hacettepe.edu.tr., Ardıçlı D; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Turkey., Göçmen R; Hacettepe University Faculty of Medicine, Department of Radiology, Turkey. Electronic address: rahsan.gocmen@hacettepe.edu.tr., Yalnızoğlu D; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Turkey. Electronic address: dileky@hacettepe.edu.tr., Topçu M; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Turkey., Coşkun T; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Turkey., Tokatlı A; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Turkey. Electronic address: atokatli@hacettepe.edu.tr., Haliloğlu G; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Turkey. Electronic address: gtuncer@hacettepe.edu.tr.
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2024 Mar; Vol. 49, pp. 66-72. Date of Electronic Publication: 2024 Feb 15.
Autor:
Jomura R; Department of Pharmaceutics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, 2630 Sugitani, Toyama, 930-0194, Japan., Akanuma SI; Department of Pharmaceutics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, 2630 Sugitani, Toyama, 930-0194, Japan., Kubo Y; Department of Pharmaceutics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, 2630 Sugitani, Toyama, 930-0194, Japan., Tachikawa M; Graduate School of Biomedical Sciences, Tokushima University, 1-78-1 Shomachi, Tokushima, 770-8505, Japan., Hosoya KI; Department of Pharmaceutics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, 2630 Sugitani, Toyama, 930-0194, Japan. hosoyak@pha.u-toyama.ac.jp.
Publikováno v:
Fluids and barriers of the CNS [Fluids Barriers CNS] 2022 Jun 03; Vol. 19 (1), pp. 42. Date of Electronic Publication: 2022 Jun 03.
Autor:
Shen M; Research Center for Translational Medicine Laboratory, Medical Innovation Research Division of Chinese PLA General Hospital, Beijing, China., Yang G; Research Center for Translational Medicine Laboratory, Medical Innovation Research Division of Chinese PLA General Hospital, Beijing, China., Chen Z; Department of Pediatrics, Peking University First Hospital, Beijing, China., Yang K; Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China., Dong H; Department of Pediatrics, Peking University First Hospital, Beijing, China., Yin C; Medical Big Data Research Center, Medical Innovation Research Division of Chinese People's Liberation Army General Hospital, Beijing, China., Cheng Y; Birth Defects Prevention and Control Technology Research Center, Medical Research and Innovation Department, Chinese PLA General Hospital, Beijing, China., Zhang C; Birth Defects Prevention and Control Technology Research Center, Medical Research and Innovation Department, Chinese PLA General Hospital, Beijing, China., Gu F; Clinical Biobank Center, Medical Innovation Research Division of Chinese PLA General Hospital, Beijing, China., Yang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China. Electronic address: yanlingy@bjmu.edu.cn., Tian Y; Birth Defects Prevention and Control Technology Research Center, Medical Research and Innovation Department, Chinese PLA General Hospital, Beijing, China. Electronic address: tianyp@301hospital.com.cn.
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2022 Jul 01; Vol. 532, pp. 29-36. Date of Electronic Publication: 2022 May 16.
Autor:
Passi GR; Department of Pediatrics & Pediatric Neurology, Choithram Hospital & Research Centre, Indore, India., Pandey S; Department of Pediatrics & Pediatric Neurology, Santokba Durlabhji Memorial Hospital, Jaipur, India., Devi ARR; Department of Genetics and Pediatric Neurology, Rainbow Children's Hospital, Hyderabad, India., Konanki R; Department of Genetics and Pediatric Neurology, Rainbow Children's Hospital, Hyderabad, India., Jain AR; Department of Genetics and Pediatric Neurology, Rainbow Children's Hospital, Hyderabad, India., Bhatnagar S; Department of Radio Diagnosis, Sri Aurobindo Institute of Medical Sciences, Indore, India., Tripathi R; Department of Pediatrics & Pediatric Neurology, Choithram Hospital & Research Centre, Indore, India., Jain V; Department of Pediatrics & Pediatric Neurology, Santokba Durlabhji Memorial Hospital, Jaipur, India. Electronic address: vivek.jain@sdmh.in.
Publikováno v:
Brain & development [Brain Dev] 2022 Apr; Vol. 44 (4), pp. 271-280. Date of Electronic Publication: 2021 Dec 30.
Autor:
Yuan H; Department of General Surgery, Pancreas Centre, the First Affiliated Hospital With Nanjing Medical University, 300 Guangzhou Road, Nanjing, P. R. China.; Pancreas Institute, Nanjing Medical University, Nanjing, China., Chen C; Department of Hepatopancreatobiliary Surgery, The Affiliated Huai'an Hospital of Xuzhou Medical University, Huai'an, China., Li H; Changzhi Medical College, Changzhi, China., Qu G; Changzhi Medical College, Changzhi, China., Chen L; Changzhi Medical College, Changzhi, China., Liu Y; Changzhi Medical College, Changzhi, China., Zhang Y; Department of General Surgery, Pancreas Centre, the First Affiliated Hospital With Nanjing Medical University, 300 Guangzhou Road, Nanjing, P. R. China., Zhao Q; Heping Hospital, Changzhi Medical College, Changzhi, China., Lian C; Heping Hospital, Changzhi Medical College, Changzhi, China., Ji A; Heping Hospital, Changzhi Medical College, Changzhi, China., Hou X; Changzhi Medical College, Changzhi, China., Liu X; Department of Pathogen Biology, Nanjing Medical University, Nanjing, China., Jiang K; Department of General Surgery, Pancreas Centre, the First Affiliated Hospital With Nanjing Medical University, 300 Guangzhou Road, Nanjing, P. R. China. jiangkuirong@njmu.edu.cn.; Pancreas Institute, Nanjing Medical University, Nanjing, China. jiangkuirong@njmu.edu.cn., Zhu Y; Department of General Surgery, Pancreas Centre, the First Affiliated Hospital With Nanjing Medical University, 300 Guangzhou Road, Nanjing, P. R. China. zhuyijssry@njmu.edu.cn.; Pancreas Institute, Nanjing Medical University, Nanjing, China. zhuyijssry@njmu.edu.cn., He Y; Changzhi Medical College, Changzhi, China. heyuan@czmc.edu.cn.; Heping Hospital, Changzhi Medical College, Changzhi, China. heyuan@czmc.edu.cn.
Publikováno v:
Molecular cancer [Mol Cancer] 2024 Jan 31; Vol. 23 (1), pp. 27. Date of Electronic Publication: 2024 Jan 31.
Autor:
Wang K; F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Research Institute, Baltimore, Maryland, USA.; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, Maryland, USA., Huang J; Department of Diagnostic Radiology, The University of Hong Kong, Hong Kong, China., Ju L; F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Research Institute, Baltimore, Maryland, USA.; Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Xu S; Department of Diagnostic Radiology and Nuclear Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA., Gullapalli RP; Department of Diagnostic Radiology and Nuclear Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA., Liang Y; Department of Diagnostic Radiology and Nuclear Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA., Rogers J; Department of Diagnostic Radiology and Nuclear Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA., Li Y; F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Research Institute, Baltimore, Maryland, USA.; Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., van Zijl PCM; F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Research Institute, Baltimore, Maryland, USA.; Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Weiss RG; Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Chan KWY; Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Biomedical Engineering, City University of Hong Kong, Hong Kong, China.; Hong Kong Centre for Cerebro-Cardiovascular Health Engineering (COCHE), Hong Kong, China., Xu J; F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Research Institute, Baltimore, Maryland, USA.; Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Publikováno v:
Magnetic resonance in medicine [Magn Reson Med] 2024 Jan; Vol. 91 (1), pp. 51-60. Date of Electronic Publication: 2023 Oct 09.
Autor:
Tropak MB; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada., Tkachyova I; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada., Gu R; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; Department of Biochemistry, University of Toronto, Toronto, Canada., Lee A; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; Department of Biochemistry, University of Toronto, Toronto, Canada., Schulze A; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada. andreas.schulze@sickkids.ca.; Department of Pediatrics, University of Toronto, Toronto, Canada. andreas.schulze@sickkids.ca.; Department of Biochemistry, University of Toronto, Toronto, Canada. andreas.schulze@sickkids.ca.
Publikováno v:
Scientific reports [Sci Rep] 2023 Dec 16; Vol. 13 (1), pp. 22392. Date of Electronic Publication: 2023 Dec 16.
Autor:
Liu N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA., Sun Q; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. qsun@bcm.edu.; Baylor Genetics, Houston, TX, USA. qsun@bcm.edu.
Publikováno v:
Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2022; Vol. 2546, pp. 129-140.