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First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel HSD17B4 Mutations and Progressive Neuropathy in Korea.
Bae, Eun Young; Yi, Yoonyoung; Lim, Han Hyuk; Lee, Jiwon M; Lee, Bongjin; Kim, Seung Yeon; Kim, Yoo Mi.
Afiliação
  • Bae EY; Department of Pediatrics, Chungnam National University College of Medicine, Chungnam National University Hospital, Daejeon, Korea.
  • Yi Y; Department of Pediatrics, Chungnam National University College of Medicine, Chungnam National University Hospital, Daejeon, Korea.
  • Lim HH; Department of Pediatrics, College of Medicine, Hallym University, Kangdong Sacred Heart Hospital, Seoul, Korea.
  • Lee JM; Department of Pediatrics, Chungnam National University College of Medicine, Chungnam National University Hospital, Daejeon, Korea.
  • Lee B; Department of Pediatrics, Chungnam National University College of Medicine, Chungnam National University Hospital, Daejeon, Korea.
  • Kim SY; Department of Pediatrics, Chungnam National University College of Medicine, Chungnam National University Hospital, Daejeon, Korea.
  • Kim YM; Department of Emergency Medicine, Seoul National University Hospital, Seoul, Korea.
J Korean Med Sci ; 35(39): e357, 2020 Oct 12.
Article em En | MEDLINE | ID: mdl-33045774
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Zellweger / Proteína Multifuncional do Peroxissomo-2 Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Female / Humans / Newborn País/Região como assunto: Asia Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Zellweger / Proteína Multifuncional do Peroxissomo-2 Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Female / Humans / Newborn País/Região como assunto: Asia Idioma: En Ano de publicação: 2020 Tipo de documento: Article