Zobrazeno 1 - 10
of 5 993
pro vyhledávání: '"Mucopolysaccharidoses"'
Autor:
Nourbakhsh N; Department of Pediatrics, Dental Research Center, Dental Research Institute, School of Dentistry, Isfahan University of Medical Sciences, Isfahan, Iran., Esfahani EA; Department of Pediatrics, School of Dentistry, Isfahan University of Medical Sciences, Isfahan, Iran. dr.elaheasnaashari@gmail.com.
Publikováno v:
BMC oral health [BMC Oral Health] 2024 Sep 27; Vol. 24 (1), pp. 1140. Date of Electronic Publication: 2024 Sep 27.
Autor:
Cyske Z; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland., Gaffke L; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland., Pierzynowska K; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland., Węgrzyn G; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Sep 04; Vol. 25 (17). Date of Electronic Publication: 2024 Sep 04.
Autor:
Bernardo Figueirêdo B; Department of Physical Therapy, Federal University of Pernambuco, Pernambuco, Brazil.; Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco, Pernambuco, Brazil., Reinaux C; Department of Physical Therapy, Federal University of Pernambuco, Pernambuco, Brazil., Oliveira TG; Department of Physical Therapy, Federal University of Pernambuco, Pernambuco, Brazil., Cavalcanti G; Department of Physical Therapy, Federal University of Pernambuco, Pernambuco, Brazil., Fernandes J; Department of Physical Therapy, Federal University of Pernambuco, Pernambuco, Brazil., Dornelas DE Andrade A; Department of Physical Therapy, Federal University of Pernambuco, Pernambuco, Brazil - armele.andrade@ufpe.br.; Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco, Pernambuco, Brazil.
Publikováno v:
Minerva pediatrics [Minerva Pediatr (Torino)] 2024 Aug; Vol. 76 (4), pp. 507-516.
Autor:
Howie AH; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada., Tingley K; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada., Inbar-Feigenberg M; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Canada., Mitchell JJ; McGill University Health Centre, Montreal, Canada., Angel K; The Canadian MPS Society, Vancouver, Canada., Gentle J; Patient Partner, Vancouver, Canada., Smith M; Patient Partner, Canadian Organization for Rare Disorders, Ottawa, Canada., Offringa M; Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Canada., Butcher NJ; Hospital for Sick Children, Toronto, Canada., Campeau PM; Université de Montréal, Montréal, Canada., Chakraborty P; Children's Hospital of Eastern Ontario, Ottawa, Canada., Chan A; Department of Medical Genetics, University of Alberta, Edmonton, Canada., Fergusson D; Ottawa Hospital Research Institute, Ottawa, Canada., Mamak E; Department of Psychology, Hospital for Sick Children, Toronto, Canada., McClelland P; Children's Hospital of Eastern Ontario, Ottawa, Canada., Mercimek-Andrews S; Department of Medical Genetics, University of Alberta, Edmonton, Canada., Mhanni A; Max Rady College of Medicine, Winnipeg, Canada.; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada., Moazin Z; Children's Hospital of Eastern Ontario, Ottawa, Canada., Rockman-Greenberg C; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada., Rupar CA; Department of Pathology and Laboratory Medicine, Western University, London, Canada., Skidmore B; Independent Information Specialist, Ottawa, Canada., Stockler S; BC Children's Hospital, Vancouver, Canada., Thavorn K; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.; Ottawa Hospital Research Institute, Ottawa, Canada., Wyatt A; Children's Hospital of Eastern Ontario, Ottawa, Canada., Potter BK; School of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Crescent, Ottawa, ON, K1G 5Z3, Canada. bpotter@uottawa.ca.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Oct 23; Vol. 19 (1), pp. 393. Date of Electronic Publication: 2024 Oct 23.
Autor:
Kim I; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea., Sung J; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea., Ahn YJ; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea., Im M; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea., Kim MJ; Biomedical Statistics Center, Research Institute for Future Medicine, Samsung Medical Center, Seoul, Korea., Park SJ; Department of Orthopedic Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea., Cho SY; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Publikováno v:
Medicine [Medicine (Baltimore)] 2024 Oct 18; Vol. 103 (42), pp. e40113.
Autor:
Douvaras P; BlueRock Therapeutics, New York, NY, USA., Buenaventura DF; BlueRock Therapeutics, New York, NY, USA., Sun B; BlueRock Therapeutics, New York, NY, USA., Lepack A; BlueRock Therapeutics, New York, NY, USA., Baker E; BlueRock Therapeutics, New York, NY, USA., Simpson E; BlueRock Therapeutics, New York, NY, USA., Ebel M; BlueRock Therapeutics, New York, NY, USA., Lallos G; BlueRock Therapeutics, New York, NY, USA., LoSchiavo D; BlueRock Therapeutics, New York, NY, USA., Stitt N; BlueRock Therapeutics, New York, NY, USA., Adams N; BlueRock Therapeutics, New York, NY, USA., McAuliffe C; BlueRock Therapeutics, New York, NY, USA., Forton-Juarez A; BlueRock Therapeutics, New York, NY, USA., Kosmyna B; BlueRock Therapeutics, New York, NY, USA., Pereira E; BlueRock Therapeutics, New York, NY, USA., Burnett B; BlueRock Therapeutics, New York, NY, USA., Dilworth D; BlueRock Therapeutics, Toronto, ON, Canada., Fisher S; BlueRock Therapeutics, Toronto, ON, Canada., Wang J; BlueRock Therapeutics, New York, NY, USA., Tonge P; BlueRock Therapeutics, New York, NY, USA., Tomishima M; BlueRock Therapeutics, New York, NY, USA., Paladini C; BlueRock Therapeutics, New York, NY, USA., Wilkinson D; BlueRock Therapeutics, New York, NY, USA., Soh CL; BlueRock Therapeutics, New York, NY, USA., Srinivas M; BlueRock Therapeutics, New York, NY, USA., Patsch C; BlueRock Therapeutics, New York, NY, USA. christoph.patsch@merckgroup.com.; Merck KGaA, Darmstadt, Germany. christoph.patsch@merckgroup.com., Irion S; BlueRock Therapeutics, New York, NY, USA. sirion@bluerocktx.com.
Publikováno v:
Nature communications [Nat Commun] 2024 Sep 16; Vol. 15 (1), pp. 8132. Date of Electronic Publication: 2024 Sep 16.
Autor:
Kang Q; Shanghai Health Development Research Center (Shanghai Medical Information Research Center), Shanghai, China., Fang Y; Shanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Laboratory of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Shanghai, China., Yang Y; Shanghai Health Development Research Center (Shanghai Medical Information Research Center), Shanghai, China., Li D; Shanghai Foundation for Rare Disease, Shanghai, China., Zheng L; Beijing Zhengyu MPS Care Center for Assistance, Beijing, China., Chen X; Putuo Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, China., Tu X; Shanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Laboratory of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Shanghai, China. tuxwcn@163.com., Jin C; Shanghai Health Development Research Center (Shanghai Medical Information Research Center), Shanghai, China. jinchunlin@shdrc.org.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Sep 06; Vol. 19 (1), pp. 324. Date of Electronic Publication: 2024 Sep 06.
Autor:
Muenzer J; Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA. Electronic address: muenzer@med.unc.edu., Ho C; Denali Therapeutics, 161 Oyster Point Boulevard, South San Francisco, CA 94080, USA. Electronic address: ho@dnli.com., Lau H; Ultragenyx Pharmaceutical, Inc., 60 Leveroni Court, Novato, CA 94949. USA. Electronic address: HLau@ultragenyx.com., Dant M; The Ryan Foundation, Inc., 5309 McPherson Blvd. 105 #284, Fort Worth, Texas 76123, USA., Fuller M; Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital and Adelaide Medical School and School of Biological Sciences, University of Adelaide, Adelaide, 5005, SA, Australia. Electronic address: maria.fuller@adelaide.edu.au., Boulos N; REGENXBIO Inc., Rockville, M, .D., USA. Electronic address: nboulos@regenxbio.com., Dickson P; Washington University School of Medicine, 4444 Forest Park, Suite 5400, St. Louis, MO 63108, USA. Electronic address: pdickson@wustl.edu., Ellinwood NM; National MPS Society, PO Box 14686, Durham, NC 27709, USA. Electronic address: matthew@mpssociety.org., Jones SA; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK. Electronic address: simon.jones@cmft.nhs.uk., Zanelli E; Allievex Corp., PO Box 1056, Marblehead, MA 01945, USA. Electronic address: eric@allievex.com., O'Neill C; Cure Sanfilippo Foundation, PO Box 6901, Columbia, SC 29260, USA. Electronic address: cara@curesanfilippofoundation.org.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Aug; Vol. 142 (4), pp. 108535. Date of Electronic Publication: 2024 Jul 10.
Autor:
Rintz E; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza, 59, 80-308 Gdansk, Poland. Electronic address: estera.rintz@ug.edu.pl., Banacki M; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza, 59, 80-308 Gdansk, Poland., Ziemian M; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza, 59, 80-308 Gdansk, Poland., Kobus B; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza, 59, 80-308 Gdansk, Poland., Wegrzyn G; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza, 59, 80-308 Gdansk, Poland.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Jul; Vol. 142 (3), pp. 108507. Date of Electronic Publication: 2024 May 24.
Autor:
Sato VN; Department of Radiology, Escola Paulista de Medicina/Universidade Federal de São Paulo (UNIFESP), Rua Napoleão de Barros, 800 - Vila Clementino, São Paulo, SP, 04024-002, Brazil. vitor.neves.sato@gmail.com.; Division of Musculoskeletal Radiology, Diagnóstico das Américas (DASA), São Paulo, SP, Brazil. vitor.neves.sato@gmail.com.; Department of Radiology, Hospital Do Coração (HCor) and Teleimagem, São Paulo, SP, Brazil. vitor.neves.sato@gmail.com., Moriwaki TL; Department of Radiology, Escola Paulista de Medicina/Universidade Federal de São Paulo (UNIFESP), Rua Napoleão de Barros, 800 - Vila Clementino, São Paulo, SP, 04024-002, Brazil.; Division of Musculoskeletal Radiology, Diagnóstico das Américas (DASA), São Paulo, SP, Brazil., do Amaral E Castro A; Department of Radiology, Escola Paulista de Medicina/Universidade Federal de São Paulo (UNIFESP), Rua Napoleão de Barros, 800 - Vila Clementino, São Paulo, SP, 04024-002, Brazil.; Department of Radiology, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., da Rocha Correa Fernandes A; Department of Radiology, Escola Paulista de Medicina/Universidade Federal de São Paulo (UNIFESP), Rua Napoleão de Barros, 800 - Vila Clementino, São Paulo, SP, 04024-002, Brazil.; Radiology Department - Grupo de Radiologia e Diagnóstico por Imagem da Rede D'or, São Paulo, SP, Brazil., Guimaraes JB; Department of Radiology, Escola Paulista de Medicina/Universidade Federal de São Paulo (UNIFESP), Rua Napoleão de Barros, 800 - Vila Clementino, São Paulo, SP, 04024-002, Brazil.; Department of Musculoskeletal Radiology, Fleury Medicina E Saúde, São Paulo, SP, Brazil.
Publikováno v:
Skeletal radiology [Skeletal Radiol] 2024 Jun; Vol. 53 (6), pp. 1211-1217. Date of Electronic Publication: 2023 Nov 06.