Zobrazeno 1 - 10
of 22 746
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:
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:
Mandolfo O; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, University of Manchester, 3.721 Stopford Building, Manchester, UK., Parker H; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, University of Manchester, 3.721 Stopford Building, Manchester, UK.; 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., Aguado È; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, University of Manchester, 3.721 Stopford Building, Manchester, UK., Ishikawa Learmonth Y; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, University of Manchester, 3.721 Stopford Building, Manchester, UK., Liao AY; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, University of Manchester, 3.721 Stopford Building, Manchester, UK., O'Leary C; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, University of Manchester, 3.721 Stopford Building, Manchester, UK., Ellison S; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, University of Manchester, 3.721 Stopford Building, Manchester, UK., Forte G; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, University of Manchester, 3.721 Stopford Building, Manchester, UK., Taylor J; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, University of Manchester, 3.721 Stopford Building, Manchester, UK., Wood S; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, University of Manchester, 3.721 Stopford Building, Manchester, UK.; Centre for Regenerative Medicine, Institute for Regeneration and Repair, The University of Edinburgh, Edinburgh, UK., Searle R; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, University of Manchester, 3.721 Stopford Building, Manchester, UK.; Centre for Regenerative Medicine, Institute for Regeneration and Repair, The University of Edinburgh, Edinburgh, 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, UK., Boutin H; Division of Neuroscience & Experimental Psychology, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Geoffrey Jefferson Brain Research Centre, Manchester Academic Health Science Centre, Northern Care Alliance & University of Manchester, Manchester, UK.; INSERM, UMR 1253, iBrain, Université de Tours, Tours, France., Bigger BW; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, University of Manchester, 3.721 Stopford Building, Manchester, UK. brian.bigger@ed.ac.uk.; Centre for Regenerative Medicine, Institute for Regeneration and Repair, The University of Edinburgh, Edinburgh, UK. brian.bigger@ed.ac.uk.
Publikováno v:
EMBO molecular medicine [EMBO Mol Med] 2024 Jul; Vol. 16 (7), pp. 1579-1602. Date of Electronic Publication: 2024 Jun 18.
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:
Barbero-Herranz R; Microbiology Department, Hospital Universitario Ramón y Cajal and Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain., Garriga-García M; Endocrinology and Nutrition Service, Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain., Moreno-Blanco A; Microbiology Department, Hospital Universitario Ramón y Cajal and Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.; CIBER de Enfermedades Infecciosas, Instituto de Salud Carlos III, 28029 Madrid, Spain., Palacios E; Microbiology Department, Hospital Universitario Ramón y Cajal and Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain., Ruiz-Sala P; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Autonomous University of Madrid (UAM), IdiPaz, 28049 Madrid, Spain.; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, 28049 Madrid, Spain., Vicente-Santamaría S; Endocrinology and Nutrition Service, Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain., Stanescu S; Unidad de Enfermedades Metabólicas Hospital, CSUR, MetabERN, Pediatric Department, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain., Belanger-Quintana A; Unidad de Enfermedades Metabólicas Hospital, CSUR, MetabERN, Pediatric Department, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain., Pintos-Morell G; Vall d'Hebron Institut de Recerca (VHIR), Unidad de Enfermedades Raras, Hospital Vall d'Hebron Barcelona Hospital Campus, Comité Médico Consultivo MPS-Lisosomales, 08035 Barcelona, Spain., Arconada B; Federación Española de Enfermedades Raras (FEDER), 28009 Madrid, Spain., Del Campo R; Microbiology Department, Hospital Universitario Ramón y Cajal and Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.; CIBER de Enfermedades Infecciosas, Instituto de Salud Carlos III, 28029 Madrid, Spain.; Faculty of Health Sciences, Alfonso X El Sabio University, Villanueva de la Cañada, 28691 Madrid, Spain., Avendaño-Ortiz J; Microbiology Department, Hospital Universitario Ramón y Cajal and Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.; CIBER de Enfermedades Infecciosas, Instituto de Salud Carlos III, 28029 Madrid, Spain.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Aug 14; Vol. 25 (16). Date of Electronic Publication: 2024 Aug 14.
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.
Autor:
Losada JC; Institute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Cra. 7 No. 43-82 Building 54, Lab 305 A., Bogotá D.C., 110231, Colombia., Triana H; Institute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Cra. 7 No. 43-82 Building 54, Lab 305 A., Bogotá D.C., 110231, Colombia., Vanegas E; Chemistry Department, Faculty of Science, Pontificia Universidad Javeriana, Cra. 7 No. 43-82 Building 52, Room 110 305 A., Bogotá D.C., 110231, Colombia., Caro A; Chemistry Department, Faculty of Science, Pontificia Universidad Javeriana, Cra. 7 No. 43-82 Building 52, Room 110 305 A., Bogotá D.C., 110231, Colombia., Rodríguez-López A; Institute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Cra. 7 No. 43-82 Building 54, Lab 305 A., Bogotá D.C., 110231, Colombia.; Dogma Biotech, Cr 13 A No. 127 A-84, Bogotá D.C., 110111, Colombia., Espejo-Mojica AJ; Institute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Cra. 7 No. 43-82 Building 54, Lab 305 A., Bogotá D.C., 110231, Colombia., Alméciga-Diaz CJ; Institute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Cra. 7 No. 43-82 Building 54, Lab 305 A., Bogotá D.C., 110231, Colombia.
Publikováno v:
Chembiochem : a European journal of chemical biology [Chembiochem] 2024 Aug 01; Vol. 25 (15), pp. e202400081. Date of Electronic Publication: 2024 Jul 16.
Autor:
Schuh RS; Postgraduate Program in Pharmaceutical Sciences, UFRGS, Porto Alegre, RS, Brazil; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil. Electronic address: roselena.schuh@ufrgs.br., Franceschi EP; Postgraduate Program in Pharmaceutical Sciences, UFRGS, Porto Alegre, RS, Brazil., Brum BB; Postgraduate Program in Pharmaceutical Sciences, UFRGS, Porto Alegre, RS, Brazil; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Fachel FNS; Postgraduate Program in Pharmaceutical Sciences, UFRGS, Porto Alegre, RS, Brazil., Poletto É; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA., Vera LNP; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA., Santos HS; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Medeiros-Neves B; Postgraduate Program in Pharmaceutical Sciences, UFRGS, Porto Alegre, RS, Brazil., Monteagudo de Barros V; Postgraduate Program in Pharmaceutical Sciences, UFRGS, Porto Alegre, RS, Brazil., Helena da Rosa Paz A; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Baldo G; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, RS, Brazil., Matte U; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, RS, Brazil., Giugliani R; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, RS, Brazil., Ferreira Teixeira H; Postgraduate Program in Pharmaceutical Sciences, UFRGS, Porto Alegre, RS, Brazil.
Publikováno v:
International journal of pharmaceutics [Int J Pharm] 2024 Jul 20; Vol. 660, pp. 124355. Date of Electronic Publication: 2024 Jun 17.
Autor:
Lau YK; Department of Orthopaedic Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Iyer K; Department of Orthopaedic Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Shetye S; Department of Orthopaedic Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Friday CS; Department of Orthopaedic Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Dodge GR; Department of Orthopaedic Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Mechano Therapeutics LLC, Philadelphia, Pennsylvania, USA., Hast MW; Department of Orthopaedic Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Casal ML; Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Gawri R; Department of Orthopaedic Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Smith LJ; Department of Orthopaedic Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Publikováno v:
Journal of orthopaedic research : official publication of the Orthopaedic Research Society [J Orthop Res] 2024 Jul; Vol. 42 (7), pp. 1409-1419. Date of Electronic Publication: 2024 Feb 18.