Zobrazeno 1 - 10
of 54 332
pro vyhledávání: '"mucopolysaccharidosis"'
Autor:
Cyske, Zuzanna1 (AUTHOR) zuzanna.cyske@ug.edu.pl, Gaffke, Lidia1 (AUTHOR), Pierzynowska, Karolina1 (AUTHOR), Węgrzyn, Grzegorz1 (AUTHOR) grzegorz.wegrzyn@biol.ug.edu.pl
Publikováno v:
International Journal of Molecular Sciences. Sep2024, Vol. 25 Issue 17, p9570. 15p.
Autor:
Yi, Mengni1 (AUTHOR), Shen, Pinquan2 (AUTHOR) shenpinquan@xinhuamed.com.cn, Zhang, Huiwen1 (AUTHOR) zhanghuiwen@xinhuamed.com.cn
Publikováno v:
BMC Medical Genomics. 6/3/2024, Vol. 17 Issue 1, p1-9. 9p.
Autor:
Mao SJ; Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China., Chen QQ; Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China., Dai YL; Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China., Dong GP; Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China., Zou CC; Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China. zcc14@zju.edu.cn.
Publikováno v:
Italian journal of pediatrics [Ital J Pediatr] 2024 Oct 08; Vol. 50 (1), pp. 207. Date of Electronic Publication: 2024 Oct 08.
Autor:
Muenzer J; University of North Carolina at Chapel Hill, 101 Manning Drive CB# 7487, Medical School Wing E Room 117, Chapel Hill, NC 27599-7487, USA. Electronic address: muenzer@med.unc.edu., Amartino H; Servicio de Neurología Infantil, Hospital Universitario Austral, Pilar, Buenos Aires, Argentina. Electronic address: hernan.amartino@gmail.com., Burton BK; Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University, 225 E. Chicago Avenue, Chicago, IL 60611, USA. Electronic address: BBurton@luriechildrens.org., Scarpa M; Regional Coordinating Center for Rare Diseases, Udine University Hospital, P.le S. Maria della Misericordia 15, Udine 33100, Italy. Electronic address: maurizio.scarpa@asufc.sanita.fvg.it., Tylki-Szymańska A; Department of Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland. Electronic address: atylki@op.pl., Audi J; Takeda Pharmaceuticals International AG, Thurgauerstrasse 130, 8152 Glattpark (Opfikon), Zurich, Switzerland. Electronic address: jennyaudi@gmail.com., Botha J; Takeda Pharmaceuticals International AG, Thurgauerstrasse 130, 8152 Glattpark (Opfikon), Zurich, Switzerland. Electronic address: jaco.botha@takeda.com., Fertek D; Takeda Pharmaceuticals International AG, Thurgauerstrasse 130, 8152 Glattpark (Opfikon), Zurich, Switzerland. Electronic address: daniel.fertek@gmail.com., Merberg D; Takeda Development Center Americas, Inc., 500 Kendall Street, Cambridge, MA 02141, USA. Electronic address: merbergd@gmail.com., Natarajan M; Takeda Development Center Americas, Inc., 500 Kendall Street, Cambridge, MA 02141, USA. Electronic address: madhu@crosswalktx.com., Whiteman DAH; Takeda Development Center Americas, Inc., 95 Hayden Avenue, Lexington, MA 02421, USA. Electronic address: dahw.md@gmail.com., Giugliani R; Department of Genetics/UFRGS, Medical Genetics Service/HCPA, INAGEMP, DASA and Casa dos Raros, Porto Alegre, Brazil. Electronic address: rgiugliani@hcpa.edu.br.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108576. Date of Electronic Publication: 2024 Sep 10.
Autor:
Yan L; The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, China., Ding S; Department of Pediatrics, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, China., He Y; Department of Pediatrics, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, China., Fu B; Health Science Center, Ningbo University, Ningbo, Zhejiang, China., Chen C; Ningbo Key Laboratory for the Prevention and Treatment of Embryogenic Diseases, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, China., Li H; The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, China.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Aug; Vol. 12 (8), pp. e2507.
Autor:
Vargas-López, Viviana1 (AUTHOR), Prada, Luisa F.1 (AUTHOR), Alméciga-Díaz, Carlos J.1 (AUTHOR) cjalmeciga@javeriana.edu.co
Publikováno v:
Scientific Reports. 2/17/2024, Vol. 14 Issue 1, p1-11. 11p.
Autor:
Chkioua L; Research Laboratory of Human Genome and Multifactorial Diseases (LR12ES07), Faculty of Pharmacy, University of Monastir, Monastir, Tunisia. chkioualatifa2002@yahoo.fr., El Fissi H; Department of Biology, Laboratory of Biotechnologies and Valorization of Natural Resources, School of Sciences, IBN Zohr University, Agadir, Morocco., Amri Y; Laboratory of Biochemistry (LR 00SP03), Bechir Hamza Children's Hospital, Tunis, Tunisia.; Department of Educational Sciences, Higher Institute of Applied Studies in Humanity Le Kef, University of Jendouba, Le Kef, Tunisia., Sahli C; Laboratory of Biochemistry (LR 00SP03), Bechir Hamza Children's Hospital, Tunis, Tunisia., Bouzid F; Department of Biology, Laboratory of Biotechnologies and Valorization of Natural Resources, School of Sciences, IBN Zohr University, Agadir, Morocco., Boudabous H; Laboratory of Pediatrics, La Rabta Hospital, Tunis, Tunisia., Tbib N; Laboratory of Pediatrics, La Rabta Hospital, Tunis, Tunisia., Ferchichi S; Laboratory of Biochemistry, Farhat Hached Hospital, Sousse, Tunisia., Massoud T; Laboratory of Biochemistry (LR 00SP03), Bechir Hamza Children's Hospital, Tunis, Tunisia., Alif N; Department of Biology, Laboratory of Biotechnologies and Valorization of Natural Resources, School of Sciences, IBN Zohr University, Agadir, Morocco., Laradi S; The Eurofins biomedical laboratory -Interlab, Toulouse, 31000, France., Ben Abdennebi H; Research Laboratory of Human Genome and Multifactorial Diseases (LR12ES07), Faculty of Pharmacy, University of Monastir, Monastir, Tunisia.
Publikováno v:
BMC genomics [BMC Genomics] 2024 Oct 09; Vol. 25 (1), pp. 948. Date of Electronic Publication: 2024 Oct 09.
Autor:
Mandolfo O; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, University of Manchester, 3.721 Stopford Building, Manchester M13 9PT, UK., Parker H; Lydia Becker Institute of Immunology and Inflammation, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Usman A; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, University of Manchester, 3.721 Stopford Building, Manchester M13 9PT, UK., Learmonth YI; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, University of Manchester, 3.721 Stopford Building, Manchester M13 9PT, UK., Holley RJ; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, University of Manchester, 3.721 Stopford Building, Manchester M13 9PT, UK., MacDonald A; Lydia Becker Institute of Immunology and Inflammation, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., McKay T; Centre for Bioscience, The Manchester Metropolitan University, E206 John Dalton Building, Manchester M1 5GD, UK., Bigger B; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, University of Manchester, 3.721 Stopford Building, Manchester M13 9PT, UK; Centre for Regenerative Medicine, Institute for Regeneration and Repair, University of Edinburgh, Edinburgh BioQuarter, 5 Little France Drive, EH16 4UU, Edinburgh, UK. Electronic address: brian.bigger@ed.ac.uk.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108533. Date of Electronic Publication: 2024 Jul 09.
Autor:
Olivieri C; Department of Surgical Sciences, University of Turin, Turin, Italy.; Department of Ophthalmology, 'City of Health and Science' Hospital, Turin, Italy., Ricardi F; Department of Surgical Sciences, University of Turin, Turin, Italy.; Department of Ophthalmology, 'City of Health and Science' Hospital, Turin, Italy., Coletto A; Department of Surgical Sciences, University of Turin, Turin, Italy.; Department of Ophthalmology, 'City of Health and Science' Hospital, Turin, Italy., Marica V; Department of Surgical Sciences, University of Turin, Turin, Italy.; Department of Ophthalmology, 'City of Health and Science' Hospital, Turin, Italy., Serafino S; Department of Surgical Sciences, University of Turin, Turin, Italy.; Department of Ophthalmology, 'City of Health and Science' Hospital, Turin, Italy., Marolo P; Department of Surgical Sciences, University of Turin, Turin, Italy.; Department of Ophthalmology, 'City of Health and Science' Hospital, Turin, Italy., Reibaldi M; Department of Surgical Sciences, University of Turin, Turin, Italy.; Department of Ophthalmology, 'City of Health and Science' Hospital, Turin, Italy., Borrelli E; Department of Surgical Sciences, University of Turin, Turin, Italy.; Department of Ophthalmology, 'City of Health and Science' Hospital, Turin, Italy.
Publikováno v:
European journal of ophthalmology [Eur J Ophthalmol] 2024 Sep; Vol. 34 (5), pp. NP72-NP77. Date of Electronic Publication: 2024 May 27.
Autor:
Al-Hertani W; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Pathak RR; Takeda Pharmaceuticals USA, Inc., Lexington, MA 02421, USA., Evuarherhe O; Oxford PharmaGenesis, Oxford OX13 5QJ, UK., Carter G; Oxford PharmaGenesis, Oxford OX13 5QJ, UK., Schaeffer-Koziol CR; Takeda Pharmaceuticals USA, Inc., Lexington, MA 02421, USA., Whiteman DAH; Takeda Development Center Americas, Inc., Lexington, MA 02421, USA., Wright E; Takeda Development Center Americas, Inc., Lexington, MA 02421, USA.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Aug 06; Vol. 25 (16). Date of Electronic Publication: 2024 Aug 06.