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An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant.
Kashima, Daniel T; Sloan-Heggen, Christina M; Gottlieb-Smith, Rachel J; Barone Pritchard, Amanda.
Afiliação
  • Kashima DT; Division of Pediatric Neurology, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan, USA.
  • Sloan-Heggen CM; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan, USA.
  • Gottlieb-Smith RJ; Division of Pediatric Neurology, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan, USA.
  • Barone Pritchard A; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan, USA.
Am J Med Genet A ; 191(6): 1614-1618, 2023 06.
Article em En | MEDLINE | ID: mdl-36891747
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Púrpura / Encefalopatias / Encefalopatias Metabólicas Congênitas Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Púrpura / Encefalopatias / Encefalopatias Metabólicas Congênitas Idioma: En Ano de publicação: 2023 Tipo de documento: Article