Zobrazeno 1 - 10
of 97 322
pro vyhledávání: '"inborn"'
Autor:
Zhu J; Prenatal Diagnosis Center, Urumqi Maternal and Child Health Hospital, Urumqi, Xinjiang Uygur Autonomous Region, China.; Xinjiang Clinical Research Center for Perinatal Diseases, Urumqi, China., Han L; Neonatal Department, Urumqi Maternal and Child Health Hospital, Urumqi, Xinjiang Uygur Autonomous Region, China., Yang P; Prenatal Diagnosis Center, Urumqi Maternal and Child Health Hospital, Urumqi, Xinjiang Uygur Autonomous Region, China., Feng Z; Prenatal Diagnosis Center, Urumqi Maternal and Child Health Hospital, Urumqi, Xinjiang Uygur Autonomous Region, China., Xue S; Prenatal Diagnosis Center, Urumqi Maternal and Child Health Hospital, Urumqi, Xinjiang Uygur Autonomous Region, China.; Xinjiang Clinical Research Center for Perinatal Diseases, Urumqi, China.
Publikováno v:
PeerJ [PeerJ] 2024 Dec 09; Vol. 12, pp. e18173. Date of Electronic Publication: 2024 Dec 09 (Print Publication: 2024).
Autor:
Caldovic L; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Hospital, Washington, DC, USA.; Department of Genomics and Precision Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC, USA., Ahn JJ; Department of Anatomy and Cell Biology, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA., Andricovic J; Department of Anatomy and Cell Biology, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA., Balick VM; Department of Biochemistry and Molecular Medicine, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA., Brayer M; Department of Biological Sciences, The George Washington University, Washington, DC, USA., Chansky PA; The Institute for Biomedical Science, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA., Dawson T; The Institute for Biomedical Science, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA.; AMPEL BioSolutions LLC, Charlottesville, Virginia, USA., Edwards AC; The Institute for Biomedical Science, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA.; Center for Neuroscience Research, Children's National Research Institute, Children's National Hospital, Washington, DC, USA., Felsen SE; The Institute for Biomedical Science, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA.; Center for Neuroscience Research, Children's National Research Institute, Children's National Hospital, Washington, DC, USA., Ismat K; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Hospital, Washington, DC, USA.; Department of Genomics and Precision Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC, USA., Jagannathan SV; The Institute for Biomedical Science, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA., Mann BT; Department of Microbiology, Immunology, and Tropical Medicine, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA., Medina JA; The Institute for Biomedical Science, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA., Morizono T; College of Science and Engineering, University of Minnesota, Minneapolis, Minnesota, USA., Morizono M; College of Science and Engineering, University of Minnesota, Minneapolis, Minnesota, USA., Salameh S; Department of Pharmacology & Physiology, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA.; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Hospital, Washington, DC, USA., Vashist N; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Hospital, Washington, DC, USA.; Department of Genomics and Precision Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC, USA., Williams EC; Department of Anatomy and Cell Biology, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.; The George Washington University Cancer Center, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA., Zhou Z; Department of Civil and Environmental Engineering, The George Washington University, Washington, DC, USA., Morizono H; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Hospital, Washington, DC, USA.; Department of Genomics and Precision Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC, USA.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Nov; Vol. 47 (6), pp. 1175-1193. Date of Electronic Publication: 2023 Nov 05.
Autor:
Schwahn BC; Division of Evolution & Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK., van Spronsen F; Department of Metabolic Diseases, Beatrix Children's, University Medical Center (UMC) Groningen, Groningen, Netherlands., Misko A; Massachusetts General Hospital Department of Neurology, Boston, Massachusetts, USA., Pavaine J; Department of Paediatric Radiology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, University of Manchester, Manchester, UK.; Division of Informatics, Imaging & Data Sciences, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Holmes V; Willink Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Spiegel R; Department of Pediatrics Unit B, Emek Medical Center, Afula, Israel., Schwarz G; Center for Molecular Medicine Cologne, Köln, Germany., Wong F; Monash Children's Hospital/Hudson Institute of Medical Research/Monash University, Melbourne, Victoria, Australia., Horman A; Great Ormond Street Hospital, London, UK., Pitt J; Victorian Clinical Genetics Services, The Royal Children's Hospital, Parkville, Victoria, Australia., Sass JO; RG Inborn Error of Metabolism, Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Bonn-Rhein-Sieg University of Applied Sciences, Rheinbach, Germany., Lubout C; Department of Metabolic Diseases, Beatrix Children's, University Medical Center (UMC) Groningen, Groningen, Netherlands.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 598-623. Date of Electronic Publication: 2024 Apr 16.
Autor:
Rattanapornsompong K; Center of Excellence in Genomics and Precision Dentistry, Geriatric Dentistry and Special Patients Care Program, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand., Chetruengchai W; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, Bangkok, Thailand., Srichomthong C; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, Bangkok, Thailand., Theerapanon T; Center of Excellence in Genomics and Precision Dentistry, Geriatric Dentistry and Special Patients Care Program, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand., Porntaveetus T; Center of Excellence in Genomics and Precision Dentistry, Geriatric Dentistry and Special Patients Care Program, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand., Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun; Vol. 194 (6), pp. e63557. Date of Electronic Publication: 2024 Feb 02.
Autor:
Goldstein J; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Thomas-Wilson A; New York Genome Center, New York, NY, USA., Groopman E; Children's National Hospital, 111 Michigan Ave NW, Washington, DC, USA., Aggarwal V; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Bianconi S; Kaiser Permanente, Southern California Permanente Group, CA, USA., Fernandez R; American College of Medical Genetics and Genomics, Bethesda, MD, USA., Hart K; Newborn Screening Program, Utah Public Health Laboratory, Department of Health and Human Services, Salt Lake City, UT, USA., Longo N; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA., Liang N; The Hospital for Sick Children, Toronto, Canada., Reich D; Newborn Screening Program, Utah Public Health Laboratory, Department of Health and Human Services, Salt Lake City, UT, USA., Wallis H; Association for Creatine Deficiencies, Carlsbad, CA, USA., Weaver M; American College of Medical Genetics and Genomics, Bethesda, MD, USA., Young S; Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Mercimek-Andrews S; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada. Electronic address: saadet@ualberta.ca.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108362. Date of Electronic Publication: 2024 Mar 02.
Autor:
Couce ML; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain. maria.luz.couce.pico@sergas.es.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain. maria.luz.couce.pico@sergas.es., Bóveda MD; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., Castiñeiras DE; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., Vázquez-Mosquera ME; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., Barbosa-Gouveia S; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., De Castro MJ; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., Iglesias-Rodríguez AJ; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., Colón C; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., Cocho JA; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain., Sánchez P; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 May 17; Vol. 19 (1), pp. 202. Date of Electronic Publication: 2024 May 17.
Autor:
Guerrero-Barrios S; Benemérita Universidad Autónoma de Puebla, Facultad de Medicina, División de Investigación en Salud. Puebla, Puebla, México., Chiquillo-Domínguez M; Benemérita Universidad Autónoma de Puebla, Facultad de Medicina, División de Investigación en Salud. Puebla, Puebla, México., Ayón-Aguilar J; Instituto Mexicano del Seguro Social, Órgano de Operación Administrativa Desconcentrada Estatal Puebla, Coordinación Auxiliar Médica de Investigación en Salud. Puebla, Puebla, México., Rodriguez-Alfaro SE; Universidad Popular Autónoma del Estado de Puebla, Facultad de Medicina, Departamento del Área de la Salud. Puebla, Puebla, México., Méndez-Martínez S; Instituto Mexicano del Seguro Social, Órgano de Operación Administrativa Desconcentrada, Coordinación de Planeación y Enlace Institucional. Puebla, Puebla, México., García-Flores MA; Instituto Mexicano del Seguro Social, Órgano de Operación Administrativa Desconcentrada Estatal Puebla, Coordinación Auxiliar Médica de Educación en Salud. Puebla, Puebla, México.
Publikováno v:
Revista medica del Instituto Mexicano del Seguro Social [Rev Med Inst Mex Seguro Soc] 2024 Nov 04; Vol. 62 (6), pp. 1-7. Date of Electronic Publication: 2024 Nov 04.
Autor:
Gougeard N; Instituto de Biomedicina de Valencia, IBV-CSIC, Valencia, Spain.; Group 739, Centro de Investigación Biomédica en Red de Enfermedades Raras, (CIBERER-ISCIII) at the IBV-CSIC, Valencia, Spain., Sancho-Vaello E; Instituto de Biomedicina de Valencia, IBV-CSIC, Valencia, Spain., Fernández-Murga ML; Instituto de Biomedicina de Valencia, IBV-CSIC, Valencia, Spain., Martínez-Sinisterra B; Instituto de Biomedicina de Valencia, IBV-CSIC, Valencia, Spain., Loukili-Hassani B; Instituto de Biomedicina de Valencia, IBV-CSIC, Valencia, Spain., Häberle J; University Children's Hospital Zurich and Children's Research Centre, Zurich, Switzerland., Marco-Marín C; Instituto de Biomedicina de Valencia, IBV-CSIC, Valencia, Spain.; Group 739, Centro de Investigación Biomédica en Red de Enfermedades Raras, (CIBERER-ISCIII) at the IBV-CSIC, Valencia, Spain., Rubio V; Instituto de Biomedicina de Valencia, IBV-CSIC, Valencia, Spain.; Group 739, Centro de Investigación Biomédica en Red de Enfermedades Raras, (CIBERER-ISCIII) at the IBV-CSIC, Valencia, Spain.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Nov; Vol. 47 (6), pp. 1194-1212. Date of Electronic Publication: 2024 May 13.
Autor:
Vela-Amieva M; Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City C.P. 04530, Mexico., Alcántara-Ortigoza MA; Laboratorio de Biología Molecular, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City C.P. 04530, Mexico., González-Del Angel A; Laboratorio de Biología Molecular, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City C.P. 04530, Mexico., Fernández-Hernández L; Laboratorio de Biología Molecular, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City C.P. 04530, Mexico., Reyna-Fabián ME; Laboratorio de Biología Molecular, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City C.P. 04530, Mexico., Estandía-Ortega B; Laboratorio de Biología Molecular, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City C.P. 04530, Mexico., Guillén-López S; Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City C.P. 04530, Mexico., López-Mejía L; Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City C.P. 04530, Mexico., Belmont-Martínez L; Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City C.P. 04530, Mexico., Carrillo-Nieto RI; Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City C.P. 04530, Mexico., Ibarra-González I; Unidad de Genética de la Nutrición, Instituto de Investigaciones Biomédicas, UNAM, Mexico City C.P. 04530, Mexico., Ryu SW; 3billion, Inc., Seoul 03161, Republic of Korea., Lee H; 3billion, Inc., Seoul 03161, Republic of Korea., Fernández-Lainez C; Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City C.P. 04530, Mexico.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Oct 31; Vol. 25 (21). Date of Electronic Publication: 2024 Oct 31.
Autor:
Yoldas Celik M; Department of Pediatric Metabolism and Nutrition, Medical Faculty, Ege University, Izmir, 35040, Turkey., Canda E; Department of Pediatric Metabolism and Nutrition, Medical Faculty, Ege University, Izmir, 35040, Turkey. ebru.canda@gmail.com., Yazici H; Department of Pediatric Metabolism and Nutrition, Medical Faculty, Ege University, Izmir, 35040, Turkey., Erdem F; Department of Pediatric Metabolism and Nutrition, Medical Faculty, Ege University, Izmir, 35040, Turkey., Yuksel Yanbolu A; Department of Pediatric Metabolism and Nutrition, Medical Faculty, Ege University, Izmir, 35040, Turkey., Atik Altınok Y; Department of Pediatric Metabolism and Nutrition, Medical Faculty, Ege University, Izmir, 35040, Turkey., Eraslan C; Department of Radiology, Medical Faculty, Ege University, Izmir, 35040, Turkey., Aykut A; Department of Medical Genetics, Medical Faculty, Ege University, Izmir, 35040, Turkey., Durmaz A; Department of Medical Genetics, Medical Faculty, Ege University, Izmir, 35040, Turkey., Habif S; Department of Medical Biochemistry, Medical Faculty, Ege University, Izmir, 35040, Turkey., Kalkan Ucar S; Department of Pediatric Metabolism and Nutrition, Medical Faculty, Ege University, Izmir, 35040, Turkey., Coker M; Department of Pediatric Metabolism and Nutrition, Medical Faculty, Ege University, Izmir, 35040, Turkey.
Publikováno v:
European journal of pediatrics [Eur J Pediatr] 2024 Dec 10; Vol. 184 (1), pp. 72. Date of Electronic Publication: 2024 Dec 10.