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. |
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| 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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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.61786 |
