Zobrazeno 1 - 10
of 46 224
pro vyhledávání: '"metabolism, inborn errors"'
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:
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:
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:
Yap S; Department of Inherited Metabolic Diseases, Sheffield Children's Hospital, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield, S10 2TH, UK. sufin.yap@nhs.net., Gasperini S; Metabolic Rare Disease Unit 'Fondazione Mariani', Pediatric Department, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Matsumoto S; Department of Neonatology, Kumamoto University, Honjo 1-1-1, Chu-oh-ku, Kumamoto, Japan., Feillet F; Pediatric Unit, Reference Center for Inborn Errors of Metabolism, University Hospital of Nancy, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, Nancy, France.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Dec 18; Vol. 19 (1), pp. 464. Date of Electronic Publication: 2024 Dec 18.
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.
Autor:
Beyzaei Z; Shiraz Transplant Research Center (STRC), Shiraz University of Medical Sciences, Shiraz, Iran., Moravej H; Department of Pediatric Endocrinology, Shiraz University of Medical Sciences, Shiraz, Iran.; Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Imanieh MH; Gastroenterology and Hepatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Inaloo S; Neuroscience Research Centers, Shiraz University of Medical Sciences, Shiraz, Iran., Geramizadeh B; Shiraz Transplant Research Center (STRC), Shiraz University of Medical Sciences, Shiraz, Iran. geramib@gmail.com.; Department of Pathology, Shiraz University of Medical Sciences, Khalili St., Research Tower, Seventh Floor, Shiraz Transplant Research Center (STRC), Shiraz, Iran. geramib@gmail.com.
Publikováno v:
BMC pediatrics [BMC Pediatr] 2024 Dec 04; Vol. 24 (1), pp. 795. Date of Electronic Publication: 2024 Dec 04.
Publikováno v:
Zhonghua yi xue za zhi [Zhonghua Yi Xue Za Zhi] 2024 Dec 03; Vol. 104 (45), pp. 4118-4124.
Autor:
Garrett R; Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.; Metabolomics Laboratory, Institute of Chemistry, Federal University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil., Ptolemy AS; Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States., Pickett S; Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States., Kellogg MD; Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States., Peake RWA; Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
Publikováno v:
Clinical chemistry [Clin Chem] 2024 Dec 02; Vol. 70 (12), pp. 1452-1462.
Autor:
Li R; iPS Cell Advanced Characterization and Development Team, BioResource Research Center, RIKEN, 3-1-1 Koyadai, Tsukuba, Ibaraki 305-0074, Japan; School of Integrative and Global Majors, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki 305-8577, Japan., Tsuboi H; Department of Materials Science and Bioengineering, Nagaoka University of Technology, 1603-1 Kami-Tomioka, Nagaoka, Niigata 940-2188, Japan., Ito H; iPS Cell Advanced Characterization and Development Team, BioResource Research Center, RIKEN, 3-1-1 Koyadai, Tsukuba, Ibaraki 305-0074, Japan., Takagi D; iPS Cell Advanced Characterization and Development Team, BioResource Research Center, RIKEN, 3-1-1 Koyadai, Tsukuba, Ibaraki 305-0074, Japan., Chang YH; iPS Cell Advanced Characterization and Development Team, BioResource Research Center, RIKEN, 3-1-1 Koyadai, Tsukuba, Ibaraki 305-0074, Japan., Shimizu T; iPS Cell Advanced Characterization and Development Team, BioResource Research Center, RIKEN, 3-1-1 Koyadai, Tsukuba, Ibaraki 305-0074, Japan., Arai Y; iPS Cell Advanced Characterization and Development Team, BioResource Research Center, RIKEN, 3-1-1 Koyadai, Tsukuba, Ibaraki 305-0074, Japan., Matsuo-Takasaki M; iPS Cell Advanced Characterization and Development Team, BioResource Research Center, RIKEN, 3-1-1 Koyadai, Tsukuba, Ibaraki 305-0074, Japan., Noguchi M; Cell Engineering Division, BioResource Research Center, RIKEN, 3-1-1 Koyadai, Tsukuba, Ibaraki 305-0074, Japan., Nakamura Y; Cell Engineering Division, BioResource Research Center, RIKEN, 3-1-1 Koyadai, Tsukuba, Ibaraki 305-0074, Japan., Ohnuma K; Department of Materials Science and Bioengineering, Nagaoka University of Technology, 1603-1 Kami-Tomioka, Nagaoka, Niigata 940-2188, Japan; Department of Science of Technology Innovation, Nagaoka University of Technology, 1603-1 Kami-Tomioka, Nagaoka, Niigata 940-2188, Japan., Takahashi S; Department of Pediatrics, Asahikawa Medical University, 2-1-1-1 Midorigaoka Higashi, Asahikawa, Hokkaido 078-8510, Japan. Electronic address: satoru5p@asahikawa-med.ac.jp., Hayashi Y; iPS Cell Advanced Characterization and Development Team, BioResource Research Center, RIKEN, 3-1-1 Koyadai, Tsukuba, Ibaraki 305-0074, Japan; School of Integrative and Global Majors, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki 305-8577, Japan. Electronic address: yohei.hayashi@riken.jp.
Publikováno v:
Stem cell research [Stem Cell Res] 2024 Dec; Vol. 81, pp. 103584. Date of Electronic Publication: 2024 Oct 18.