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Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.

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Title: Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.
Authors: Xiao C; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Astiazaran-Symonds E; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Basu S; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Kisling M; Rare Disease Institute, Children's National Health System, Washington, District of Columbia, USA., Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Hong Kong, SAR., Chapman KA; Rare Disease Institute, Children's National Health System, Washington, District of Columbia, USA., Wang Y; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Vockley J; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, USA.; Center for Rare Disease Therapy, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Ferreira CR; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Oct; Vol. 182 (10), pp. 2426-2431. Date of Electronic Publication: 2020 Aug 17.
Publication Type: Case Reports; Research Support, N.I.H., Extramural; Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.
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  Data: <searchLink fieldCode="AU" term="%22Xiao+C%22">Xiao C</searchLink>; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Astiazaran-Symonds+E%22">Astiazaran-Symonds E</searchLink>; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Basu+S%22">Basu S</searchLink>; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Kisling+M%22">Kisling M</searchLink>; Rare Disease Institute, Children's National Health System, Washington, District of Columbia, USA.<br /><searchLink fieldCode="AU" term="%22Scaglia+F%22">Scaglia F</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Hong Kong, SAR.<br /><searchLink fieldCode="AU" term="%22Chapman+KA%22">Chapman KA</searchLink>; Rare Disease Institute, Children's National Health System, Washington, District of Columbia, USA.<br /><searchLink fieldCode="AU" term="%22Wang+Y%22">Wang Y</searchLink>; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Vockley+J%22">Vockley J</searchLink>; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, USA.; Center for Rare Disease Therapy, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Ferreira+CR%22">Ferreira CR</searchLink>; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2020 Oct; Vol. 182 (10), pp. 2426-2431. <i>Date of Electronic Publication: </i>2020 Aug 17.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
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        Value: 10.1002/ajmg.a.61786
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              Text: 2020 Oct
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