Zobrazeno 1 - 10
of 63 062
pro vyhledávání: '"Inborn Errors"'
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:
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:
Mansoor S; Translational Genomics Laboratory, COMSATS University Islamabad, Islamabad, Pakistan; Department of Biochemistry, Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Pakistan; Translational Genomics Laboratory, Taramri Chock, COMSATS University, Park Road, Islamabad, Islamabad 45550, Pakistan. Electronic address: sumreena.scm@stmu.edu.pk., Qamar R; Science and Technology Sector, ICESCO, Rabat 10104, Morocco; Pakistan Academy of Sciences, Islamabad, Pakistan; Translational Genomics Laboratory, Taramri Chock, COMSATS University, Park Road, Islamabad, Islamabad 45550, Pakistan., Azam M; Translational Genomics Laboratory, COMSATS University Islamabad, Islamabad, Pakistan; Translational Genomics Laboratory, Taramri Chock, COMSATS University, Park Road, Islamabad, Islamabad 45550, Pakistan. Electronic address: maleeha.azam@comsats.edu.pk.
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Aug 15; Vol. 562, pp. 119883. Date of Electronic Publication: 2024 Jul 30.
Autor:
Finezilber Y; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust, London, UK., Massey C; Therapy and Rehabilitation, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, London, UK.; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK., Radley JA; London North West Healthcare Regional Genetics Service, Northwick Park Hospital, London, UK., Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust, London, UK Elaine.murphy8@nhs.net.
Publikováno v:
Practical neurology [Pract Neurol] 2024 Sep 13; Vol. 24 (5), pp. 413-416. Date of Electronic Publication: 2024 Sep 13.
Autor:
Vieira Neto E; Genetic and Genomic Medicine Division, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh.; Children's Neuroscience Institute, Department of Pediatrics, School of Medicine, and., Wang M; Genetic and Genomic Medicine Division, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh., Szuminsky AJ; Department of Biological Sciences, Kenneth P. Dietrich School of Arts and Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Ferraro L; Genetic and Genomic Medicine Division, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh.; School of Medicine and., Koppes E; Genetic and Genomic Medicine Division, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh., Wang Y; Genetic and Genomic Medicine Division, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh., Van't Land C; Genetic and Genomic Medicine Division, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh., Mohsen AW; Genetic and Genomic Medicine Division, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh., Zanatta G; Department of Biophysics, Federal University of Rio Grande do Sul, Porto Alegre, Brazil., El-Gharbawy AH; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., Anthonymuthu TS; Adeptrix Corporation, Beverly, Massachusetts, USA., Tyurina YY; Department of Environmental and Occupational Health, Center for Free Radical and Antioxidant Health, School of Public Health., Tyurin VA; Department of Environmental and Occupational Health, Center for Free Radical and Antioxidant Health, School of Public Health., Kagan V; Department of Environmental and Occupational Health, Center for Free Radical and Antioxidant Health, School of Public Health.; Department of Pharmacology and Chemical Biology, School of Medicine; Department of Chemistry, Kenneth P. Dietrich School of Arts and Sciences; and Department of Radiation Oncology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Bayır H; Division of Critical Care and Hospital Medicine, Department of Pediatrics, Redox Health Center, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York, USA., Vockley J; Genetic and Genomic Medicine Division, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh.; Department of Human Genetics, School of Public Health, Center for Rare Disease Therapy, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Publikováno v:
JCI insight [JCI Insight] 2024 Sep 10; Vol. 9 (17). Date of Electronic Publication: 2024 Sep 10.
Autor:
Yoldaş Çelik M; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Canda E; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Yazıcı H; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Erdem F; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Yüksel Yanbolu A; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Aykut A; Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey, Durmaz A; Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey, Anık A; Aydın Adnan Menderes University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Endocrinology, Aydın, Turkey, Kalkan Uçar S; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Çoker M; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey
Publikováno v:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Sep 05; Vol. 16 (3), pp. 361-366. Date of Electronic Publication: 2023 Jan 04.
Autor:
Wang CH; Department of Infectious Diseases, Xiamen Children's Hospital, Children's Hospital of Fudan University at Xiamen, Xiamen 361006, China., Lu M; Department of Pediatrics, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen 361003, China., Zhao J; Department of Infectious Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China., Huang BQ; Department of Infectious Diseases, Xiamen Children's Hospital, Children's Hospital of Fudan University at Xiamen, Xiamen 361006, China., Ye PP; Department of Infectious Diseases, Xiamen Children's Hospital, Children's Hospital of Fudan University at Xiamen, Xiamen 361006, China., Wang JS; Department of Infectious Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.
Publikováno v:
Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2024 Sep 02; Vol. 62 (9), pp. 877-882.
Autor:
Schuurmans IME; Radboud university medical center, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, the Netherlands; Emma Center for Personalized Medicine, Departments of Pediatrics and Human Genetics, Amsterdam University Medical Center, Amsterdam, the Netherlands., van Karnebeek CDM; Emma Center for Personalized Medicine, Departments of Pediatrics and Human Genetics, Amsterdam University Medical Center, Amsterdam, the Netherlands; United for Metabolic Diseases, Amsterdam, the Netherlands., Hoogendoorn ADM; Radboud university medical center, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, the Netherlands., Ribes A; Section of Inborn Errors of Metabolism-IBC. Department of Biochemistry and Molecular Genetics. Hospital Clinic de Barcelona, IDIBAPS-CIBERER, Barcelona, Spain., Nadif Kasri N; Radboud university medical center, Department of Human Genetics, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, the Netherlands., Garanto A; Radboud university medical center, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, the Netherlands; Radboud university medical center, Department of Human Genetics, Nijmegen, the Netherlands. Electronic address: alex.garanto@radboudumc.nl.
Publikováno v:
Stem cell research [Stem Cell Res] 2024 Sep; Vol. 79, pp. 103481. Date of Electronic Publication: 2024 Jun 19.
Autor:
Mastrangelo M; Woman/Child Health and Urological Sciences Department, Sapienza University of Rome, Via dei Sabelli 108, 00185, Rome, Italy. mario.mastrangelo@uniroma1.it.; Unit of Child Neurology and Psychiatry, Department of Neuroscience/Mental Health, Azienda Ospedaliero Universitaria Policlinico Umberto, Rome, Italy. mario.mastrangelo@uniroma1.it., Manti F; Unit of Child Neurology and Psychiatry, Department of Neuroscience/Mental Health, Azienda Ospedaliero Universitaria Policlinico Umberto, Rome, Italy.; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Ricciardi G; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Cinnante EMC; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Cameli N; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Beatrice A; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Tolve M; Clinical Pathology Unit, Azienda Ospedaliero-Universitaria Policlinico Umberto I, Rome, Italy., Pisani F; Unit of Child Neurology and Psychiatry, Department of Neuroscience/Mental Health, Azienda Ospedaliero Universitaria Policlinico Umberto, Rome, Italy.; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
Publikováno v:
European journal of pediatrics [Eur J Pediatr] 2024 Sep; Vol. 183 (9), pp. 3665-3678. Date of Electronic Publication: 2024 Jul 02.
Autor:
Daher RT; Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Taoum KE; Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Samaha J; Inherited Metabolic Diseases Program, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Karam PE; Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon. pk06@aub.edu.lb.; Inherited Metabolic Diseases Program, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon. pk06@aub.edu.lb.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Aug 29; Vol. 19 (1), pp. 315. Date of Electronic Publication: 2024 Aug 29.