Zobrazeno 1 - 10
of 403
pro vyhledávání: '"Isovaleryl-CoA dehydrogenase"'
Autor:
Zhou W; Neonatal Screening Center, Xuzhou Maternity and Child Health Care Hospital, Xuzhou, Jiangsu, China., Huang T; Department of Pharmacy, Xuzhou Maternity and Child Health Care Hospital, Xuzhou, Jiangsu, China., Li H; Neonatal Screening Center, Xuzhou Maternity and Child Health Care Hospital, Xuzhou, Jiangsu, China., Gu M; Neonatal Screening Center, Xuzhou Maternity and Child Health Care Hospital, Xuzhou, Jiangsu, China.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Nov; Vol. 12 (11), pp. e70034.
Autor:
Rock R; National Newborn Screening Program, Ministry of Health, Tel-HaShomer, Ramat-Gan, Israel.; Metabolic Diseases Clinic, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-HaShomer, Israel., Rock O; Department of Ophthalmology, Sheba Medical Center, Tel-HaShomer, Israel.; Faculty of Medicine and Health Sciences, Tel Aviv University, Tel-Aviv, Israel., Daas S; National Newborn Screening Program, Ministry of Health, Tel-HaShomer, Ramat-Gan, Israel., Biton-Regev V; National Newborn Screening Program, Ministry of Health, Tel-HaShomer, Ramat-Gan, Israel., Sagiv N; National Newborn Screening Program, Ministry of Health, Tel-HaShomer, Ramat-Gan, Israel., Salah NA; Department of Neonatology, Shaare Zedek Medical Center, Jerusalem, Israel.; Department of Neonatology, Red Crescent Society Hospital, Jerusalem, Israel., Anikster Y; Faculty of Medicine and Health Sciences, Tel Aviv University, Tel-Aviv, Israel.; Edmond and Lily Safra Children's Hospital Sheba Medical Center, Tel-HaShomer, Ramat Gan, Israel., Barel O; Genomics Unit, The Center for Cancer Research, Sheba Medical Center, Tel-HaShomer, Ramat Gan, Israel., Cohen RH; Pediatric Neurology Unit and Magen Rare Disease Center, Wolfson Medical Center, Holon, Israel., Dumin E; Clinical Metabolic Laboratory, Sheba Medical Center, Tel-HaShomer, Ramat Gan, Israel.; Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Fattal-Valevski A; Faculty of Medicine and Health Sciences, Tel Aviv University, Tel-Aviv, Israel.; Pediatric Neurology Unit, Dana Children Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Falik-Zaccai T; Institute of Human Genetics, The Galilee Medical Center, Naharia, Israel.; The Azrieli Faculty of Medicine, Bar Ilan, Israel., Herskovitz E; Pediatric D Department, Soroka Medical Center, Beer Sheva, Israel.; Faculty of Health Sciences, Ben-Gurion University, Beer Sheva, Israel., Josefsberg S; Genetics Institute, Kaplan Medical Center, Rehovot, Israel., Khammash H; Department of Neonatology, Makassed Islamic Hospital, Jerusalem, Israel., Kneller K; Metabolic Diseases Clinic, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-HaShomer, Israel., Korman SH; Wilf Children's Hospital, Shaare Zedek Medical Center, Jerusalem, Israel.; Metabolic Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel., Landau YE; Faculty of Medicine and Health Sciences, Tel Aviv University, Tel-Aviv, Israel.; Metabolic Disease Unit, Schneider Children's Medical Center of Israel, Tel Aviv University, Israel., Lerman-Sagie T; Faculty of Medicine and Health Sciences, Tel Aviv University, Tel-Aviv, Israel.; Pediatric Neurology Unit and Magen Rare Disease Center, Wolfson Medical Center, Holon, Israel., Mandel H; Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; Metabolic Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel., Pras E; Faculty of Medicine and Health Sciences, Tel Aviv University, Tel-Aviv, Israel.; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel., Reznik-Wolf H; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel., Shaag A; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Lotan NS; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Spiegel R; Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; Department of Pediatrics B, Metabolic Service, Emek Medical Center, Afula, Israel., Tal G; Metabolic Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel., Staretz-Chacham O; Metabolic Clinic, Pediatric Division, Soroka University Medical Center, Ben Gurion University, Beer-Sheva, Israel., Wilnai Y; Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Almashanu S; National Newborn Screening Program, Ministry of Health, Tel-HaShomer, Ramat-Gan, Israel.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Jan; Vol. 48 (1), pp. e12800. Date of Electronic Publication: 2024 Sep 24.
Autor:
Liu N; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China; Shandong Province Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, China., Zhang Y; Department of Medical Laboratory, Shandong Medical College, Jinan, Shandong 250002, China., Dong R; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China; Shandong Province Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, China., Lv Y; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China; Shandong Province Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, China., Gao M; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China; Shandong Province Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, China., Yang X; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China; Shandong Province Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, China. Electronic address: tianwailaikecs@163.com., Liu Y; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China; Shandong Province Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, China. Electronic address: y_liu99@sina.com., Gai Z; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China; Shandong Province Clinical Research Center for Children's Health and Disease, Jinan, Shandong 250022, China.
Publikováno v:
Stem cell research [Stem Cell Res] 2024 Apr; Vol. 76, pp. 103314. Date of Electronic Publication: 2024 Jan 22.
Autor:
Brown EA; The Department of Organismic and Evolutionary Biology, Harvard University, 26 Oxford Street, Cambridge, MA 02138, United States.; Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, United States., Kales S; The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, United States., Boyle MJ; The Department of Organismic and Evolutionary Biology, Harvard University, 26 Oxford Street, Cambridge, MA 02138, United States., Vitti J; The Department of Organismic and Evolutionary Biology, Harvard University, 26 Oxford Street, Cambridge, MA 02138, United States.; Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, United States., Kotliar D; The Department of Organismic and Evolutionary Biology, Harvard University, 26 Oxford Street, Cambridge, MA 02138, United States.; Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, United States., Schaffner S; Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, United States., Tewhey R; The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, United States., Sabeti PC; The Department of Organismic and Evolutionary Biology, Harvard University, 26 Oxford Street, Cambridge, MA 02138, United States.; Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, United States.; Howard Hughes Medical Institute, Harvard University, 26 Oxford Street, Cambridge, MA 02138, United States.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2024 Jan 20; Vol. 33 (3), pp. 270-283.
Autor:
D'Annibale OM; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, and UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15261, USA., Koppes EA; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, and UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA., Alodaib AN; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, and UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA; Department of Clinical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Kochersperger C; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, and UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA., Karunanidhi A; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, and UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA., Mohsen AW; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, and UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15261, USA., Vockley J; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, and UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15261, USA. Electronic address: gerard.vockley@chp.edu.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2021 Sep-Oct; Vol. 134 (1-2), pp. 29-36. Date of Electronic Publication: 2021 Aug 30.
Autor:
Mütze U; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany., Henze L; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany., Gleich F; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany., Lindner M; Division of Pediatric Neurology, University Children's Hospital Frankfurt, Frankfurt, Germany., Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany., Spiekerkoetter U; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany., Santer R; Department of Pediatrics, University Medical Centre Eppendorf, Hamburg, Germany., Blessing H; Kinder- und Jugendklinik, Universitätsklinikum Erlangen, Erlangen, Germany., Thimm E; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Ensenauer R; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Institute of Child Nutrition, Max-Rubner-Institut, Karlsruhe, Germany., Weigel J; Praxis für Kinder- und Jugendmedizin, Endokrinologie und Stoffwechsel, Augsburg, Germany., Beblo S; Department of Women and Child Health, Hospital for Children and Adolescents, Center for Pediatric Research Leipzig (CPL), University Hospitals, University of Leipzig, Leipzig, Germany., Arélin M; Department of Women and Child Health, Hospital for Children and Adolescents, Center for Pediatric Research Leipzig (CPL), University Hospitals, University of Leipzig, Leipzig, Germany., Hennermann JB; Villa Metabolica, Department for Pediatric and Adolescent Medicine, Mainz University Medical Center, Mainz, Germany., Marquardt T; Department of General Pediatrics, Metabolic Diseases, University Children's Hospital Muenster, Muenster, Germany., Marquardt I; Department of Child Neurology, Children's Hospital Oldenburg, Oldenburg, Germany., Freisinger P; Children's Hospital Reutlingen, Klinikum am Steinenberg, Reutlingen, Germany., Krämer J; University of Ulm, Department of Pediatric and Adolescent Medicine, Ulm, Germany., Dieckmann A; Center for Inborn Metabolic Disorders, Department of Neuropediatrics, Jena University Hospital, Jena, Germany., Weinhold N; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Center for Chronically Sick Children, Berlin, Germany., Keller M; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany., Walter M; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany., Schiergens KA; Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany., Maier EM; Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany., Hoffmann GF; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany., Garbade SF; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany., Kölker S; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Jul; Vol. 44 (4), pp. 857-870. Date of Electronic Publication: 2021 Feb 07.
Autor:
Ibarra-González I; Unidad de Genética de la Nutrición Instituto de Investigaciones Biomédicas, UNAM-Instituto Nacional de Pediatría SS, Mexico., Fernández-Lainez C; Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico., Guillén-López S; Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico., López-Mejía L; Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico., Belmont-Matínez L; Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico., Sokolsky TD; Parabase Genomics, Inc., Boston, MA, USA; Baebies, Inc., Durham, NC, USA., Amin VR; Baebies, Inc., Durham, NC, USA., Kitchener RL; Baebies, Inc., Durham, NC, USA., Vela-Amieva M; Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico. Electronic address: dravelaamieva@yahoo.com., Naylor EW; Department of Pediatrics (Genetics), Medical University of South Carolina, Charleston, SC, USA. Electronic address: ednaylor@enmedmicroanalytics.com., Bhattacharjee A; Parabase Genomics, Inc., Boston, MA, USA; Baebies, Inc., Durham, NC, USA. Electronic address: abhattacharjee@baebies.com.
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2020 Feb; Vol. 501, pp. 216-221. Date of Electronic Publication: 2019 Nov 09.
Autor:
Che F; Shaanxi Provincial Institute of Pediatrics, Xi'an Children's Hospital, Xi'an, Shaanxi 710002, China. 38821506@qq. com., Yang Y, Wang Z, Wang G, Wu H, Zhang L, Wei J, Zhao Y, 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] 2021 Feb 10; Vol. 38 (2), pp. 150-153.
Autor:
Lin Y; Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China., Chen D; Department of Neonatal Intensive Care Unit, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China., Peng W; Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China., Wang K; Integrated Technical Service Center, Quanzhou Customs, Quanzhou, Fujian Province 362000, China., Lin W; Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China., Zhuang J; Prenatal Diagnosis Center, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China., Zheng Z; Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China., Li M; Hangzhou Genuine Clinical Laboratory Co. Ltd, Hangzhou, Zhejiang Province 310007, China. Electronic address: limin@biosan.cn., Fu Q; Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China. Electronic address: wrightlym@sina.com.
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2020 Oct; Vol. 509, pp. 25-29. Date of Electronic Publication: 2020 Jun 04.