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Authors :
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
Subjects: Pyruvate Dehydrogenase Complex Deficiency Disease*/Pyruvate Dehydrogenase Complex Deficiency Disease*/Pyruvate Dehydrogenase Complex Deficiency Disease*/diagnostic imaging ; Pyruvate Dehydrogenase Complex Deficiency Disease*/Pyruvate Dehydrogenase Complex Deficiency Disease*/Pyruvate Dehydrogenase Complex Deficiency Disease*/genetics ; Magnetic Resonance Imaging*
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Source:
Neurology [Neurology] 2024 Aug 27; Vol. 103 (4), pp. e209728. Date of Electronic Publication: 2024 Aug 05.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium:
Record details
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Authors :
Cameron T; Royal Aberdeen Children's Hospital, NHS Grampian, Aberdeen, Scotland, UK.; School of Health Sciences, Robert Gordon University, Aberdeen, Scotland, UK.
Subjects: Diet, Ketogenic*/Diet, Ketogenic*/Diet, Ketogenic*/methods ; Pyruvate Dehydrogenase Complex Deficiency Disease*/Pyruvate Dehydrogenase Complex Deficiency Disease*/Pyruvate Dehydrogenase Complex Deficiency Disease*/diet therapy ; Drug Resistant Epilepsy*/Drug Resistant Epilepsy*/Drug Resistant Epilepsy*/diet therapy Glut1 Deficiency Syndrome
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Source:
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 Publisher: Wiley on behalf of The British Dietetic Association Ltd., [c1988- Country of Publication: England NLM ID: 8904840 Publication Model:
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Authors :
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.
Subjects: Pyruvate Dehydrogenase (Lipoamide)*/Pyruvate Dehydrogenase (Lipoamide)*/Pyruvate Dehydrogenase (Lipoamide)*/genetics ; Pyruvate Dehydrogenase Complex Deficiency Disease*/Pyruvate Dehydrogenase Complex Deficiency Disease*/Pyruvate Dehydrogenase Complex Deficiency Disease*/genetics ; Heterozygote*
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Source:
European journal of neurology [Eur J Neurol] 2024 Jul; Vol. 31 (7), pp. e16283. Date of Electronic Publication: 2024 Mar 18.Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331
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Authors :
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: .
Subjects: Pyruvate Dehydrogenase Complex Deficiency Disease*/Pyruvate Dehydrogenase Complex Deficiency Disease*/Pyruvate Dehydrogenase Complex Deficiency Disease*/metabolism ; Brain*/Brain*/Brain*/metabolism ; Brain*/Brain*/Brain*/diagnostic imaging
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Source:
Cell metabolism [Cell Metab] 2024 Jun 04; Vol. 36 (6), pp. 1394-1410.e12.Publisher: Cell Press Country of Publication: United States NLM ID: 101233170 Publication Model: Print Cited Medium: Internet ISSN: 1932-7420
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Authors :
Zhou H; Emergency Department, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, China.; Wen Y
Subjects: Shock, Septic*/Shock, Septic*/Shock, Septic*/diagnosis ; Shock, Septic*/Shock, Septic*/Shock, Septic*/etiology ; Acidosis, Lactic*/Acidosis, Lactic*/Acidosis, Lactic*/diagnosis
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Source:
The Journal of international medical research [J Int Med Res] 2024 May; Vol. 52 (5), pp. 3000605241252112.Publisher: Sage Publications Country of Publication: England NLM ID: 0346411 Publication Model: Print Cited Medium: Internet ISSN: 1473-2300
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Authors :
Laxmi V; Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, 342005, India.; Gunasekaran PK
Subjects: Pyruvate Dehydrogenase Complex Deficiency Disease* ; Acidosis, Lactic* ; Myelitis* Pyruvate Dehydrogenase E1 Alpha Deficiency; acute flaccid myelitis
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Source:
Indian journal of pediatrics [Indian J Pediatr] 2024 May; Vol. 91 (5), pp. 518. Date of Electronic Publication: 2023 Oct 03.Publisher: Dr. K. C. Chaudhuri Foundation, co-published by Springer India Country of Publication: India NLM ID: 0417442 Publication Model: Print-Electronic
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