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Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2.
Leonardis, Lea; Skrjanec Pusenjak, Marusa; Maver, Ales; Jaklic, Helena; Ozura Brecko, Ana; Koritnik, Blaz; Peterlin, Borut; Writzl, Karin.
Afiliação
  • Leonardis L; Institute of Clinical Neurophysiology (L.L., B.K.), University Medical Center Ljubljana; Department of Neurology (L.L., B.K.), Faculty of Medicine, University of Ljubljana; Clinical Institute of Genomic Medicine (M.S.P., A.M., H.J., B.P., K.W.), University Medical Centre Ljubljana; Medical Faculty (
  • Skrjanec Pusenjak M; Institute of Clinical Neurophysiology (L.L., B.K.), University Medical Center Ljubljana; Department of Neurology (L.L., B.K.), Faculty of Medicine, University of Ljubljana; Clinical Institute of Genomic Medicine (M.S.P., A.M., H.J., B.P., K.W.), University Medical Centre Ljubljana; Medical Faculty (
  • Maver A; Institute of Clinical Neurophysiology (L.L., B.K.), University Medical Center Ljubljana; Department of Neurology (L.L., B.K.), Faculty of Medicine, University of Ljubljana; Clinical Institute of Genomic Medicine (M.S.P., A.M., H.J., B.P., K.W.), University Medical Centre Ljubljana; Medical Faculty (
  • Jaklic H; Institute of Clinical Neurophysiology (L.L., B.K.), University Medical Center Ljubljana; Department of Neurology (L.L., B.K.), Faculty of Medicine, University of Ljubljana; Clinical Institute of Genomic Medicine (M.S.P., A.M., H.J., B.P., K.W.), University Medical Centre Ljubljana; Medical Faculty (
  • Ozura Brecko A; Institute of Clinical Neurophysiology (L.L., B.K.), University Medical Center Ljubljana; Department of Neurology (L.L., B.K.), Faculty of Medicine, University of Ljubljana; Clinical Institute of Genomic Medicine (M.S.P., A.M., H.J., B.P., K.W.), University Medical Centre Ljubljana; Medical Faculty (
  • Koritnik B; Institute of Clinical Neurophysiology (L.L., B.K.), University Medical Center Ljubljana; Department of Neurology (L.L., B.K.), Faculty of Medicine, University of Ljubljana; Clinical Institute of Genomic Medicine (M.S.P., A.M., H.J., B.P., K.W.), University Medical Centre Ljubljana; Medical Faculty (
  • Peterlin B; Institute of Clinical Neurophysiology (L.L., B.K.), University Medical Center Ljubljana; Department of Neurology (L.L., B.K.), Faculty of Medicine, University of Ljubljana; Clinical Institute of Genomic Medicine (M.S.P., A.M., H.J., B.P., K.W.), University Medical Centre Ljubljana; Medical Faculty (
  • Writzl K; Institute of Clinical Neurophysiology (L.L., B.K.), University Medical Center Ljubljana; Department of Neurology (L.L., B.K.), Faculty of Medicine, University of Ljubljana; Clinical Institute of Genomic Medicine (M.S.P., A.M., H.J., B.P., K.W.), University Medical Centre Ljubljana; Medical Faculty (
Neurol Genet ; 8(2): e658, 2022 Apr.
Article em En | MEDLINE | ID: mdl-35243002
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article