1 Ocak 2020 Dergi makalesi Açık Erişim

Paketci, C.; Edem, P.; Hiz, S.; Sonmezler, E.; Soydemir, D.; Uzan, G. Sarikaya; Oktay, Y.; O'Heir, E.; Beltran, S.; Laurie, S.; Topf, A.; Lochmuller, H.; Horvath, R.; Yis, U.

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    <creator>
      <creatorName>Paketci, C.</creatorName>
      <givenName>C.</givenName>
      <familyName>Paketci</familyName>
      <affiliation>Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, Izmir, Turkey</affiliation>
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    <creator>
      <creatorName>Edem, P.</creatorName>
      <givenName>P.</givenName>
      <familyName>Edem</familyName>
      <affiliation>Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, Izmir, Turkey</affiliation>
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      <creatorName>Hiz, S.</creatorName>
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      <creatorName>Sonmezler, E.</creatorName>
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      <creatorName>Soydemir, D.</creatorName>
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      <creatorName>Uzan, G. Sarikaya</creatorName>
      <givenName>G. Sarikaya</givenName>
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      <affiliation>Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, Izmir, Turkey</affiliation>
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      <creatorName>Oktay, Y.</creatorName>
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      <creatorName>Beltran, S.</creatorName>
      <givenName>S.</givenName>
      <familyName>Beltran</familyName>
      <affiliation>Barcelona Inst Sci &amp; Technol, Ctr Genom Regulat, CNAG CRG, Barcelona, Spain</affiliation>
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    <creator>
      <creatorName>Laurie, S.</creatorName>
      <givenName>S.</givenName>
      <familyName>Laurie</familyName>
      <affiliation>Barcelona Inst Sci &amp; Technol, Ctr Genom Regulat, CNAG CRG, Barcelona, Spain</affiliation>
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      <creatorName>Topf, A.</creatorName>
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      <creatorName>Lochmuller, H.</creatorName>
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      <creatorName>Horvath, R.</creatorName>
      <givenName>R.</givenName>
      <familyName>Horvath</familyName>
      <affiliation>Univ Cambridge, Dept Clin Neurosci, Cambridge, England</affiliation>
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      <creatorName>Yis, U.</creatorName>
      <givenName>U.</givenName>
      <familyName>Yis</familyName>
      <affiliation>Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, Izmir, Turkey</affiliation>
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  <titles>
    <title>Successful Treatment Of Intractable Epilepsy With Ketogenic Diet Therapy In Twins With Alg3-Cdg</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2020</publicationYear>
  <dates>
    <date dateType="Issued">2020-01-01</date>
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    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1016/j.braindev.2020.04.008</relatedIdentifier>
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  <rightsList>
    <rights rightsURI="http://www.opendefinition.org/licenses/cc-by">Creative Commons Attribution</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
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  <descriptions>
    <description descriptionType="Abstract">Background: Congenital disorders of glycosylation (CDG) is a heterogeneous group of congenital metabolic diseases with multisystem clinical involvement. ALG3-CDG is a very rare subtype with only 24 cases reported so far.</description>
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