Zobrazeno 1 - 10
of 22 825
pro vyhledávání: '"mucopolysaccharidosis"'
Autor:
AlSayed M; Department of Medical Genomics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia. moeen@kfshrc.edu.sa., Arafa D; Consultant Pediatrician and Medical Genetics, Maternity and Children Hospital, Makkah, Saudi Arabia., Al-Khawajha H; Consultant Pediatrician & Medical Genetics, Maternity and Children Hospital, Al-Ahsa, Saudi Arabia., Afqi M; Clinical Genetics and Metabolic Disorders, Consultant Pediatrician, Maternity and Children Hospital, Madinah, Saudi Arabia., Al-Sanna'a N; Clinical Geneticist, Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arabia., Sunbul R; Consultant Pediatrician and Medical Genetics, Qatif Central Hospital, Qatif, Saudi Arabia., Faden M; Genetic Unit, Maternity and Children Hospital, Consultant Pediatrician, Clinical Genetics - Metabolic and Skeletal Dysplasia, King Saud Medical City, Riyadh, Saudi Arabia.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jul 17; Vol. 19 (1), pp. 269. Date of Electronic Publication: 2024 Jul 17.
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:
Beard H; Childhood Dementia Research Group, Flinders Health and Medical Research Institute College of Medicine and Public Health Flinders University, Bedford Park, South Australia, Australia., Winner L; Childhood Dementia Research Group, Flinders Health and Medical Research Institute College of Medicine and Public Health Flinders University, Bedford Park, South Australia, Australia., Shoubridge A; Healthy Microbiome and Chronic Disease, Lifelong Health Theme, South Australian Health and Medical Research Institute (SAHMRI), Adelaide, South Australia, Australia., Parkinson-Lawrence E; Mechanisms in Cell Biology and Disease Research Group, Clinical Health Sciences, UniSA, Adelaide, South Australia, Australia., Lau AA; Childhood Dementia Research Group, Flinders Health and Medical Research Institute College of Medicine and Public Health Flinders University, Bedford Park, South Australia, Australia., Mubarokah SN; Childhood Dementia Research Group, Flinders Health and Medical Research Institute College of Medicine and Public Health Flinders University, Bedford Park, South Australia, Australia., Lance TR; Childhood Dementia Research Group, Flinders Health and Medical Research Institute College of Medicine and Public Health Flinders University, Bedford Park, South Australia, Australia., King B; Childhood Dementia Research Group, Flinders Health and Medical Research Institute College of Medicine and Public Health Flinders University, Bedford Park, South Australia, Australia., Scott W; Childhood Dementia Research Group, Flinders Health and Medical Research Institute College of Medicine and Public Health Flinders University, Bedford Park, South Australia, Australia., Snel MF; Proteomics, Metabolomics and MS-Imaging Facility, South Australian Health and Medical Research Institute (SAHMRI), Adelaide, South Australia, Australia., Trim PJ; Proteomics, Metabolomics and MS-Imaging Facility, South Australian Health and Medical Research Institute (SAHMRI), Adelaide, South Australia, Australia., Hemsley KM; Childhood Dementia Research Group, Flinders Health and Medical Research Institute College of Medicine and Public Health Flinders University, Bedford Park, South Australia, Australia.
Publikováno v:
CNS neuroscience & therapeutics [CNS Neurosci Ther] 2024 Aug; Vol. 30 (8), pp. e14919.
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:
Aubeleau M; Department of Ophthalmology, Hôpital Nord, Aix-Marseille University, Chemin des Bourrely, Marseille, France., David T; Department of Ophthalmology, Hôpital Nord, Aix-Marseille University, Chemin des Bourrely, Marseille, France., Gascon P; Department of Ophthalmology, Hôpital Nord, Aix-Marseille University, Chemin des Bourrely, Marseille, France; Centre Monticelli Paradis, Marseille, France; Groupe Almaviva Santé, Clinique Juge, Marseille, France.
Publikováno v:
Ophthalmology. Retina [Ophthalmol Retina] 2024 Oct; Vol. 8 (10), pp. e30. Date of Electronic Publication: 2024 Mar 23.
Autor:
Lau AA; Childhood Dementia Research Group, Flinders University, College of Medicine and Public Health, Flinders Health and Medical Research Institute, Bedford Park, South Australia, Australia., Jin K; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine & Health, University of Sydney, Camperdown, New South Wales, Australia., Beard H; Childhood Dementia Research Group, Flinders University, College of Medicine and Public Health, Flinders Health and Medical Research Institute, Bedford Park, South Australia, Australia., Windram T; Childhood Dementia Research Group, Flinders University, College of Medicine and Public Health, Flinders Health and Medical Research Institute, Bedford Park, South Australia, Australia., Xie K; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine & Health, University of Sydney, Camperdown, New South Wales, Australia.; Charles Perkins Centre, School of Medical Sciences, Faculty of Medicine & Health, University of Sydney, Sydney, New South Wales, Australia., O'Brien JA; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine & Health, University of Sydney, Camperdown, New South Wales, Australia., Neumann D; Childhood Dementia Research Group, Flinders University, College of Medicine and Public Health, Flinders Health and Medical Research Institute, Bedford Park, South Australia, Australia., King BM; Childhood Dementia Research Group, Flinders University, College of Medicine and Public Health, Flinders Health and Medical Research Institute, Bedford Park, South Australia, Australia., Snel MF; Proteomics, Metabolomics and MS-Imaging Core Facility, South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia., Trim PJ; Proteomics, Metabolomics and MS-Imaging Core Facility, South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia., Mitrofanis J; Fonds Clinatec, Université Grenoble Alpes, Grenoble, France.; Institute of Ophthalmology, University College London, London, UK., Hemsley KM; Childhood Dementia Research Group, Flinders University, College of Medicine and Public Health, Flinders Health and Medical Research Institute, Bedford Park, South Australia, Australia., Austin PJ; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine & Health, University of Sydney, Camperdown, New South Wales, Australia.
Publikováno v:
Journal of neurochemistry [J Neurochem] 2024 Sep; Vol. 168 (9), pp. 2791-2813. Date of Electronic Publication: 2024 Jun 07.
Autor:
Polgreen LE; Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA. lpolgreen@lundquist.org.; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA. lpolgreen@lundquist.org., Chen AH; Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Pak Y; Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Luzzi A; Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Morales Garval A; Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Acevedo J; Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Bitan G; Department of Neurology, David Geffen School of Medicine, Brain Research Institute and Molecular Biology Institute University of California, Los Angeles, Los Angeles, CA, USA., Iacovino M; Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., O'Neill C; Cure Sanfilippo Foundation, Columbia, SC, USA., Eisengart JB; Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA.
Publikováno v:
Nature medicine [Nat Med] 2024 Sep; Vol. 30 (9), pp. 2473-2479. Date of Electronic Publication: 2024 Jun 21.
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.