Zobrazeno 1 - 10
of 2 922
pro vyhledávání: '"Congenital disorders of glycosylation"'
Autor:
Weixel T; Department of Psychological Sciences, Kent State University, Kent, Ohio, USA., Wolfe L; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Macnamara EF; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Publikováno v:
Journal of genetic counseling [J Genet Couns] 2024 Dec; Vol. 33 (6), pp. 1358-1364. Date of Electronic Publication: 2024 Jan 19.
Autor:
Granjo P; UCIBIO - Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal., Pascoal C; UCIBIO - Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal.; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Lisbon, Portugal., Gallego D; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Investigación Sanitaria IdiPaZ, Madrid, Spain., Francisco R; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal.; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Lisbon, Portugal., Jaeken J; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal.; Center for Metabolic Diseases, Department of Pediatrics, KU Leuven, Leuven, 3000, Belgium., Moors T; Glycomine, Inc, 733 Industrial Road, San Carlos, CA, 94070, USA., Edmondson AC; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kantautas KA; Perlara PBC, Berkeley, CA, 94705, USA., Serrano M; Neurology Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain., Videira PA; UCIBIO - Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal. p.videira@fct.unl.pt.; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal. p.videira@fct.unl.pt.; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal. p.videira@fct.unl.pt.; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Lisbon, Portugal. p.videira@fct.unl.pt., Dos Reis Ferreira V; UCIBIO - Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal. sindromecdg@gmail.com.; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal. sindromecdg@gmail.com.; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal. sindromecdg@gmail.com.; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Lisbon, Portugal. sindromecdg@gmail.com.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Nov 01; Vol. 19 (1), pp. 407. Date of Electronic Publication: 2024 Nov 01.
Autor:
Zhao P; Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, China., Zhang X; Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, China., Duan Z; Maternal Health Care Department, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, China., Wan C; Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, China., Zhang L; Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, China., Luo S; Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, China., Zhu H; Rehabilitation Department, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, China. Electronic address: zhuyan44@163.com., He X; Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, China. Electronic address: hexuelian2013@hotmail.com.
Publikováno v:
Seizure [Seizure] 2024 Oct; Vol. 121, pp. 235-242. Date of Electronic Publication: 2024 Jul 26.
Autor:
Yoo S; Department of Pediatrics, School of Medicine, Pusan National University, Yangsan, Korea.; Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea., Cheon CK; Department of Pediatrics, School of Medicine, Pusan National University, Yangsan, Korea.; Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63721. Date of Electronic Publication: 2024 Jun 01.
Autor:
Matheny-Rabun C; JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA., Mokashi SS; JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA., Radenkovic S; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Wiggins K; JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA., Dukes-Rimsky L; JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA., Angel P; Department of Pharmacology and Immunology, Medical University of South Carolina, Charleston, SC 29425, USA., Ghesquiere B; Laboratory of Applied Mass Spectrometry, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium; Metabolomics Core Facility Leuven, Center for Cancer Biology, VIB, Leuven, Belgium., Kozicz T; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Steet R; JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Flanagan-Steet H; JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA. Electronic address: heatherfs@ggc.org.
Publikováno v:
Cell reports [Cell Rep] 2024 Nov 26; Vol. 43 (11), pp. 114976. Date of Electronic Publication: 2024 Nov 18.
Autor:
Dalton HM; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, United States of America., Young NJ; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, United States of America., Berman AR; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, United States of America., Evans HD; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, United States of America., Peterson SJ; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, United States of America., Patterson KA; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, United States of America., Chow CY; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, United States of America.
Publikováno v:
PLoS genetics [PLoS Genet] 2024 Oct 28; Vol. 20 (10), pp. e1011458. Date of Electronic Publication: 2024 Oct 28 (Print Publication: 2024).
Autor:
Du A; Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA., Yang K; Department of Immunology and.; Department of Microbiology, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Zhou X; Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA., Ren L; Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA., Liu N; Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA., Zhou C; Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA., Liang J; Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA., Yan N; Department of Immunology and.; Department of Microbiology, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Gao G; Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA.; Department of Microbiology and Physiological Systems and., Wang D; Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA.; RNA Therapeutics Institute, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA.
Publikováno v:
JCI insight [JCI Insight] 2024 Oct 08; Vol. 9 (19). Date of Electronic Publication: 2024 Oct 08.
Autor:
Zhang L; Department of Neonatology, Xi'an Children's Hospital, Xi'an, Shaanxi 710003, China. 38821506@qq.com., Yang Y, Che F, Li B, Mo L, Wang G, Zhao J
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Nov 10; Vol. 41 (11), pp. 1349-1355.
Autor:
Quelhas D; Unidade de Bioquímica Genética, Serviço de Genética Laboratorial, Centro de Genética Médica, Clínica de Genética e Patologia, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine, ICBAS, UP, Porto, Portugal; Centro Referência Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, Porto, Portugal. Electronic address: dulcequelhas.cgm@chporto.min-saude.pt., Jaeken J; Center for Metabolic Diseases, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108567. Date of Electronic Publication: 2024 Aug 18.
Autor:
Hall PL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, 200 2(nd) Street SW, Rochester, MN 55905, United States of America., Liedke K; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, 200 2(nd) Street SW, Rochester, MN 55905, United States of America., Turgeon C; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, 200 2(nd) Street SW, Rochester, MN 55905, United States of America., White A; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, 200 2(nd) Street SW, Rochester, MN 55905, United States of America., Pino GB; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, 200 2(nd) Street SW, Rochester, MN 55905, United States of America., Peck D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, 200 2(nd) Street SW, Rochester, MN 55905, United States of America., Studinski A; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, 200 2(nd) Street SW, Rochester, MN 55905, United States of America., Gavrilov D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, 200 2(nd) Street SW, Rochester, MN 55905, United States of America., Tortorelli S; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, 200 2(nd) Street SW, Rochester, MN 55905, United States of America., Oglesbee D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, 200 2(nd) Street SW, Rochester, MN 55905, United States of America., Matern D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, 200 2(nd) Street SW, Rochester, MN 55905, United States of America., Raymond K; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, 200 2(nd) Street SW, Rochester, MN 55905, United States of America., Schultz MJ; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, 200 2(nd) Street SW, Rochester, MN 55905, United States of America. Electronic address: schultz.matthew@mayo.edu.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108564. Date of Electronic Publication: 2024 Aug 11.