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.

Citation Style Language JSON

{
  "DOI": "10.1016/j.braindev.2020.04.008", 
  "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.", 
  "author": [
    {
      "family": "Paketci", 
      "given": " C."
    }, 
    {
      "family": "Edem", 
      "given": " P."
    }, 
    {
      "family": "Hiz", 
      "given": " S."
    }, 
    {
      "family": "Sonmezler", 
      "given": " E."
    }, 
    {
      "family": "Soydemir", 
      "given": " D."
    }, 
    {
      "family": "Uzan", 
      "given": " G. Sarikaya"
    }, 
    {
      "family": "Oktay", 
      "given": " Y."
    }, 
    {
      "family": "O'Heir", 
      "given": " E."
    }, 
    {
      "family": "Beltran", 
      "given": " S."
    }, 
    {
      "family": "Laurie", 
      "given": " S."
    }, 
    {
      "family": "Topf", 
      "given": " A."
    }, 
    {
      "family": "Lochmuller", 
      "given": " H."
    }, 
    {
      "family": "Horvath", 
      "given": " R."
    }, 
    {
      "family": "Yis", 
      "given": " U."
    }
  ], 
  "container_title": "BRAIN & DEVELOPMENT", 
  "id": "5909", 
  "issue": "7", 
  "issued": {
    "date-parts": [
      [
        2020, 
        1, 
        1
      ]
    ]
  }, 
  "page": "539-545", 
  "title": "Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG", 
  "type": "article-journal", 
  "volume": "42"
}