Purpuric, delayed child: Beyond septicaemia and into inborn errors of metabolism
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Published in | Journal of paediatrics and child health Vol. 57; no. 10; pp. 1703 - 1706 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
Published |
Australia
John Wiley & Sons Australia, Ltd
01.10.2021
Blackwell Publishing Ltd |
Subjects | |
Online Access | Get full text |
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Author | Selvanathan, Arthavan Parayil Sankaran, Bindu Tolun, Adviye A Hertzog, Ashley Bhattacharya, Kaustuv |
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BackLink | https://www.ncbi.nlm.nih.gov/pubmed/33586825$$D View this record in MEDLINE/PubMed |
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Cites_doi | 10.1007/s11011-016-9928-5 10.1002/ajmg.a.61104 10.1016/j.ymgme.2018.02.008 10.1038/nm.2188 10.1212/WNL.0000000000009144 10.1002/emmm.201201433 10.1086/381653 10.1038/s10038-018-0535-7 |
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Notes | Conflict of interest: None declared. |
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References_xml | – volume: 4 start-page: 1008 year: 2012 end-page: 14 article-title: Effective AAV‐mediated gene therapy in a mouse model of ethylmalonic encephalopathy publication-title: EMBO Mol. Med. – volume: 74 start-page: 239 year: 2004 end-page: 52 article-title: Ethylmalonic encephalopathy is caused by mutations in , a gene encoding a mitochondrial matri protein publication-title: Am. J. Hum. Genet. – volume: 16 start-page: 869 year: 2010 end-page: 71 article-title: Combined treatment with oral metronidazole and N‐acetylcysteine is effective in ethylmaloninc encephalopathy publication-title: Nat. Med. – volume: 124 start-page: 57 year: 2018 end-page: 63 article-title: Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy publication-title: Mol. Gen. Metab. – volume: 64 start-page: 65 year: 2019 article-title: Advances in inborn errors of metabolism publication-title: J. Hum. Genet. – volume: 94 start-page: e1 year: 2020 end-page: 4 article-title: Child neurology: Ethylmalonic encephalopathy publication-title: Neurology – volume: 32 start-page: 293 year: 2017 end-page: 6 article-title: Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N‐acetylcysteine publication-title: Metab. Brain Dis. – volume: 179 start-page: 1015 year: 2019 end-page: 9 article-title: Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy publication-title: Am. J. Med. Genet. – ident: e_1_2_6_4_1 doi: 10.1007/s11011-016-9928-5 – ident: e_1_2_6_7_1 doi: 10.1002/ajmg.a.61104 – ident: e_1_2_6_6_1 doi: 10.1016/j.ymgme.2018.02.008 – ident: e_1_2_6_3_1 doi: 10.1038/nm.2188 – ident: e_1_2_6_5_1 doi: 10.1212/WNL.0000000000009144 – ident: e_1_2_6_8_1 doi: 10.1002/emmm.201201433 – ident: e_1_2_6_2_1 doi: 10.1086/381653 – ident: e_1_2_6_9_1 doi: 10.1038/s10038-018-0535-7 |
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SubjectTerms | Babies Case reports Developmental disabilities Medical diagnosis Metabolic disorders Neurological disorders Pediatrics Purpura Sepsis |
Title | Purpuric, delayed child: Beyond septicaemia and into inborn errors of metabolism |
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