Zobrazeno 1 - 10
of 781
pro vyhledávání: '"Mucopolysaccharidosis VII"'
Autor:
Grant CL; Rare Disease Institute, Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC, USA., López-Valdez J; Department of Genetics, Centenario Hospital Miguel Hidalgo, Aguascalientes, Mexico., Marsden D; Ultragenyx Pharmaceutical Inc., Novato, CA, USA. Electronic address: DMarsden@ultragenyx.com., Ezgü F; Department of Pediatric Metabolic and Genetic Disorders, Gazi University Faculty of Medicine, Ankara, Turkey.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Mar; Vol. 141 (3), pp. 108145. Date of Electronic Publication: 2024 Jan 17.
Autor:
Giugliani R; Dep Genetics UFRGS, Casa dos Raros, INAGEMP, Med Genet Serv HCPA, and DASA Genomics, Porto Alegre, Brazil. rgiugliani@hcpa.edu.br., Gonzalez-Meneses A; Hospital Universitario Virgen del Rocio, Seville, Spain., Scarpa M; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy., Burton B; Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Wang R; University of California Irvine School of Medicine, Children's Health of Orange County, Orange, CA, USA., Martins E; Centro Hospitalar Universitário de Santo António, Porto, Portugal., Oussoren E; Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands., Hennermann JB; University Medical Center Mainz, Villa Metabolica, Mainz, Germany., Chabrol B; Centre Hospitalier Universitaire La Timone, Marseille, France., Grant CL; Children's National Hospital, Washington, District of Columbia, USA., Sun A; Seattle Children's Hospital, Seattle, WA, USA., Durand C; Laboratorio Chamoles, Buenos Aires, Argentina., Hetzer J; Ultragenyx Pharmaceutical Inc, Novato, CA, USA., Malkus B; Ultragenyx Pharmaceutical Inc, Novato, CA, USA., Marsden D; Ultragenyx Pharmaceutical Inc, Novato, CA, USA., Merritt Ii JL; Ultragenyx Pharmaceutical Inc, Novato, CA, USA.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 May 07; Vol. 19 (1), pp. 189. Date of Electronic Publication: 2024 May 07.
Autor:
Venkatakrishnan J; Department of Ophthalmology, University of Cincinnati, Cincinnati, OH, USA; Department of Biomedical Engineering, University of Cincinnati, OH, USA., Yuan Y; Department of Ophthalmology, University of Cincinnati, Cincinnati, OH, USA., Zhang J; Department of Ophthalmology, University of Cincinnati, Cincinnati, OH, USA., Yu Y; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati, OH, USA., Hu YC; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati, OH, USA., Kao WW; Department of Ophthalmology, University of Cincinnati, Cincinnati, OH, USA. Electronic address: kaoww@ucmail.uc.edu.
Publikováno v:
The ocular surface [Ocul Surf] 2024 Apr; Vol. 32, pp. 39-47. Date of Electronic Publication: 2024 Jan 12.
Autor:
Su X; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China., Zhao X; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China., Yin X; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China., Liu L; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China., Huang Y; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China., Zeng C; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China., Li X; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China., Zhang W; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China. Electronic address: zhw2001zhw@163.com.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2024 Apr; Vol. 68, pp. 104933. Date of Electronic Publication: 2024 Mar 03.
Autor:
Chandler NJ; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Ramachandran V; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Beesley C; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Otigbah C; Fetal Medicine Unit, Queens Hospital, Romford, UK., Davison J; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Ashraf T; Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Publikováno v:
Prenatal diagnosis [Prenat Diagn] 2023 Nov; Vol. 43 (12), pp. 1567-1569. Date of Electronic Publication: 2023 Nov 14.
Autor:
Kamihara Y; Division of Fetal Medicine, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan., Ozawa K; Division of Fetal Medicine, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan., Muromoto J; Division of Fetal Medicine, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan., Sugibayashi R; Division of Fetal Medicine, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan., Wada S; Division of Fetal Medicine, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan., Shibata Y; Division of Neonatology, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan., Hori A; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.; Nursing Department, Nippon Medical School Musashikosugi Hospital, Kanagawa, Japan., Hasegawa F; Center for Clinical Genetics, National Center for Child Health and Development, Tokyo, Japan., Hata K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.; Department of Human Molecular Genetics, Gunma University Graduate School of Medicine, Gunma, Japan., Sago H; Division of Fetal Medicine, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan.; Center for Clinical Genetics, National Center for Child Health and Development, Tokyo, Japan.
Publikováno v:
The journal of obstetrics and gynaecology research [J Obstet Gynaecol Res] 2023 Oct; Vol. 49 (10), pp. 2538-2543. Date of Electronic Publication: 2023 Jul 19.
Autor:
Kashiwagi M; Department of Oral and Maxillofacial Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan., Nakao K; Department of Oral and Maxillofacial Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan., Yamanaka S; Department of Oral and Maxillofacial Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan., Yamauchi I; Department of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University, Kyoto, Japan., Yamashita T; Metabolism and Endocrinology Division of Internal Medicine, Kishiwada City Hospital, Osaka, Japan., Fujii T; Department of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University, Kyoto, Japan., Ueda Y; Department of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University, Kyoto, Japan., Kawai MY; Department of Oral and Maxillofacial Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan.; Department of Medical Secretarial Arts, Kansai Women's College, Osaka, Japan., Watanabe T; Department of Oral and Maxillofacial Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan., Fukuhara S; Department of Oral and Maxillofacial Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan., Bessho K; Department of Oral and Maxillofacial Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Publikováno v:
PloS one [PLoS One] 2022 Nov 10; Vol. 17 (11), pp. e0277140. Date of Electronic Publication: 2022 Nov 10 (Print Publication: 2022).
Autor:
Basu I; Department of Biological Sciences, Indian Institute of Science Education and Research (IISER) Kolkata, Mohanpur, West Bengal, India., Bar S; Department of Biological Sciences, Indian Institute of Science Education and Research (IISER) Kolkata, Mohanpur, West Bengal, India., Prasad M; Department of Biological Sciences, Indian Institute of Science Education and Research (IISER) Kolkata, Mohanpur, West Bengal, India., Datta R; Department of Biological Sciences, Indian Institute of Science Education and Research (IISER) Kolkata, Mohanpur, West Bengal, India. Electronic address: rupakdatta@iiserkol.ac.in.
Publikováno v:
Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2022 Jul 01; Vol. 1868 (7), pp. 166399. Date of Electronic Publication: 2022 Mar 19.
Autor:
Lau HA; NYU Grossman School of Medicine, Department of Neurology, New York, NY, USA. Electronic address: Heather.Lau@nyulangone.org., Viskochil D; University of Utah, Department of Pediatrics, Salt Lake City, UT, USA. Electronic address: Dave.Viskochil@hsc.utah.edu., Tanpaiboon P; Rare Disease Institute, Children's National Health System, Washington, DC, USA. Electronic address: PTanpaib@childrensnational.org., Lopez AG; Hospital Universitario Virgen del Rocío and Universidad de Sevilla, Seville, Spain. Electronic address: antonio.gonzalezmeneses.l.sspa@juntadeandalucia.es., Martins E; Centro Hospitalar Universitário do Porto, Hospital de Santo António, Porto, Portugal. Electronic address: esmeralda.dia@chporto.min-saude.pt., Taylor J; Ultragenyx Pharmaceutical Inc., Novato, CA, USA. Electronic address: JTaylor@ultragenyx.com., Malkus B; Ultragenyx Pharmaceutical Inc., Novato, CA, USA. Electronic address: BMalkus@ultragenyx.com., Zhang L; Ultragenyx Pharmaceutical Inc., Novato, CA, USA. Electronic address: LZhang@ultragenyx.com., Jurecka A; Ultragenyx Pharmaceutical Inc., Novato, CA, USA. Electronic address: ajurecka@gmail.com., Marsden D; Ultragenyx Pharmaceutical Inc., Novato, CA, USA. Electronic address: DMarsden@ultragenyx.com.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2022 May; Vol. 136 (1), pp. 28-37. Date of Electronic Publication: 2022 Mar 09.
Autor:
Lee CL; Department of Pediatrics, MacKay Memorial Hospital, Hsinchu, Taiwan; Institute of Clinical Medicine, National Yang-Ming Chiao-Tung University, Taipei, Taiwan; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan; Department of Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan; MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan., Chuang CK; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; College of Medicine, Fu-Jen Catholic University, Taipei, Taiwan., Hsu CH; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan., Chiu HC; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan., Tu RY; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan., Lo YT; Department of Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan., Chang YH; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan; Department of Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan., Lin HY; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan; Department of Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan; MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan; Department of Medical Research, China Medical University Hospital, China Medical University, Taichung, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan. Electronic address: linhy@mmh.org.tw., Lin SP; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan; Department of Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. Electronic address: ex11@tfrd.org.tw.
Publikováno v:
Journal of the Formosan Medical Association = Taiwan yi zhi [J Formos Med Assoc] 2022 Mar; Vol. 121 (3), pp. 712-717. Date of Electronic Publication: 2021 Aug 20.