Zobrazeno 1 - 10
of 862
pro vyhledávání: '"Pyruvate Dehydrogenase Complex Deficiency Disease"'
Autor:
Li R; Beijing Key Laboratory of the Innovative Development of Functional Staple and the Nutritional Intervention for Chronic Disease, Department of Clinical Nutrition, Peking Union Medical College Hospital (PUMCH), Beijing, 100730, China., Ma M; Department of Pediatrics, Peking Union Medical College Hospital (PUMCH), Beijing, 100730, China., Chen W; Beijing Key Laboratory of the Innovative Development of Functional Staple and the Nutritional Intervention for Chronic Disease, Department of Clinical Nutrition, Peking Union Medical College Hospital (PUMCH), Beijing, 100730, China. txchenwei@sina.com., Qiu Z; Department of Pediatrics, Peking Union Medical College Hospital (PUMCH), Beijing, 100730, China. zhengqingqiu33@aliyun.com.
Publikováno v:
BMC pediatrics [BMC Pediatr] 2024 Sep 28; Vol. 24 (1), pp. 603. Date of Electronic Publication: 2024 Sep 28.
Autor:
Fortin O; From the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia., Christoffel K; From the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia., Shoaib AB; From the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia., Venkatesan C; From the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia., Cilli K; From the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia., Schroeder JW; From the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia., Alves C; From the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia., Ganetzky RD; From the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia., Fraser JL; From the Zickler Family Prenatal Pediatrics Institute (O.F., K. Christoffel, K. Cilli, J.L.F.), Department of Radiology (J.W.S.), Rare Disease Institute (J.L.F.), and Center for Genetic Medicine Research (J.L.F.), Children's National Hospital, Washington, DC; Departments of Neurology and Rehabilitation Medicine (K. Christoffel), Radiology (J.W.S.), and Pediatrics (J.L.F.), George Washington University School of Medicine and Health Sciences, Washington, DC; Departments of Pediatrics (A.B.S.) and Neurology (A.B.S.), University of Texas Southwestern Medical Center, Dallas; Division of Neurology (C.V.), Cincinnati Children's Hospital Medical Center; Department of Pediatrics (C.V.), University of Cincinnati College of Medicine, OH; Department of Radiology (C.A.), Boston Children's Hospital, MA; Division of Human Genetics (R.D.G.), Children's Hospital of Philadelphia; and Department of Pediatrics (R.D.G.), University of Pennsylvania Perelman School of Medicine, Philadelphia.
Publikováno v:
Neurology [Neurology] 2024 Aug 27; Vol. 103 (4), pp. e209728. Date of Electronic Publication: 2024 Aug 05.
Autor:
Kowalska A; Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Kondratowicza 8 St., Warsaw 03-242, Poland., Figura M; Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Kondratowicza 8 St., Warsaw 03-242, Poland. Electronic address: monika.figura@wum.edu.pl., Zawadka M; 2nd Department of Anaesthesia and Intensive Care, Medical University of Warsaw, Banacha 1a St., Warsaw 02-097, Poland., Koziorowski D; Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Kondratowicza 8 St., Warsaw 03-242, Poland.
Publikováno v:
Clinical neurology and neurosurgery [Clin Neurol Neurosurg] 2024 Jun; Vol. 241, pp. 108307. Date of Electronic Publication: 2024 Apr 30.
Autor:
Cameron T; Royal Aberdeen Children's Hospital, NHS Grampian, Aberdeen, Scotland, UK.; School of Health Sciences, Robert Gordon University, Aberdeen, Scotland, UK., Allan K; School of Health Sciences, Robert Gordon University, Aberdeen, Scotland, UK., Kay Cooper; School of Health Sciences, Robert Gordon University, Aberdeen, Scotland, UK.; Scottish Centre for Evidence-based, Multi-professional Practice: A JBI Centre of Excellence, Aberdeen, Scotland, UK.
Publikováno v:
Journal of human nutrition and dietetics : the official journal of the British Dietetic Association [J Hum Nutr Diet] 2024 Aug; Vol. 37 (4), pp. 827-846. Date of Electronic Publication: 2024 Jun 04.
Autor:
Savvidou A; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Department of Pediatrics, Queen Silvia Children's Hospital, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden., Sofou K; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Department of Pediatrics, Queen Silvia Children's Hospital, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden., Eklund EA; Section of Pediatrics, Department of Clinical Sciences, Lund University, Lund, Sweden., Aronsson J; Department of Pediatrics, Ryhov Hospital, Jönköping, Sweden., Darin N; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Department of Pediatrics, Queen Silvia Children's Hospital, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden.
Publikováno v:
European journal of neurology [Eur J Neurol] 2024 Jul; Vol. 31 (7), pp. e16283. Date of Electronic Publication: 2024 Mar 18.
Autor:
Marin-Valencia I; The Abimael Laboratory of Neurometabolism, Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Laboratory of Developmental Neurobiology, The Rockefeller University, New York, NY, USA. Electronic address: isaac.marin-valencia@mssm.edu., Kocabas A; The Abimael Laboratory of Neurometabolism, Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Rodriguez-Navas C; The Abimael Laboratory of Neurometabolism, Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Miloushev VZ; Radiology, Memorial Sloan Kettering Cancer Center, New York, NY, USA., González-Rodríguez M; The Abimael Laboratory of Neurometabolism, Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Lees H; Radiology, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Henry KE; Radiology, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Vaynshteyn J; The Abimael Laboratory of Neurometabolism, Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Longo V; Small Animal Imaging Core Facility, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Deh K; Radiology, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Eskandari R; Radiology, Memorial Sloan Kettering Cancer Center, New York, NY, USA; Department of Biochemistry, Albert Einstein College of Medicine, Bronx, NY, USA., Mamakhanyan A; Radiology, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Berishaj M; Radiology, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Keshari KR; Radiology, Memorial Sloan Kettering Cancer Center, New York, NY, USA; Molecular Pharmacology Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA; Weill Cornell Medical College, New York, NY, USA. Electronic address: rahimikk@mskcc.org.
Publikováno v:
Cell metabolism [Cell Metab] 2024 Jun 04; Vol. 36 (6), pp. 1394-1410.e12.
Autor:
Fecarotta S; Metabolic Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy. simona.fecarotta@gmail.com., D'Amico A; Department of Radiology, 'Tortorella' Private Hospital, Salerno, Italy., Di Gennaro S; Metabolic Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy., Alagia M; Metabolic Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy., Rossi A; Metabolic Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy., Zuppaldi C; Metabolic Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy., Parenti G; Metabolic Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Terrone G; Child Neuropsychiatry Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy. gaetanoterrone@virgilio.it.
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Jun; Vol. 45 (6), pp. 2913-2914. Date of Electronic Publication: 2024 Jan 30.
Autor:
Zhou H; Emergency Department, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, China., Wen Y; Department of Critical Care Medicine, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, China., Ding H; Emergency Department, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, China.
Publikováno v:
The Journal of international medical research [J Int Med Res] 2024 May; Vol. 52 (5), pp. 3000605241252112.
Autor:
Laxmi V; Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, 342005, India., Gunasekaran PK; Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, 342005, India., Kumar A; Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, 342005, India., Manjunathan S; Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, 342005, India., Tiwari S; Department of Diagnostic and Interventional Radiology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India., Saini L; Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, 342005, India. drlokeshsaini@gmail.com.
Publikováno v:
Indian journal of pediatrics [Indian J Pediatr] 2024 May; Vol. 91 (5), pp. 518. Date of Electronic Publication: 2023 Oct 03.
Autor:
Verma A; West Virginia School of Osteopathic Medicine, Lewisburg, West Virginia, USA., Lehman AN; UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Gokcan H; Department of Chemistry, Carnegie Mellon University, Pittsburgh, Pennsylvania, USA., Cropcho L; UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Black D; UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Dobrowolski SF; UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Department of Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Vockley J; UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Bedoyan JK; UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2283. Date of Electronic Publication: 2023 Sep 08.