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Clinical variability and outcome of succinyl-CoA:3-ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases.
Alghamdi, Malak A; Tohary, Mohammed; Alzaidan, Hamad; Imtiaz, Faiqa; Al-Hassnan, Zuhair N.
Affiliation
  • Alghamdi MA; Medical Genetic Division, Pediatrics Department, College of Medicine King Saud University Riyadh Saudi Arabia.
  • Tohary M; Department of Medical Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia.
  • Alzaidan H; Department of Medical Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia.
  • Imtiaz F; Department of Clinical Genomics Center of Genomic Medicine, King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia.
  • Al-Hassnan ZN; Department of Medical Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia.
JIMD Rep ; 62(1): 91-96, 2021 Nov.
Article de En | MEDLINE | ID: mdl-34765403
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Type d'étude: Prognostic_studies Langue: En Journal: JIMD Rep Année: 2021 Type de document: Article
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Type d'étude: Prognostic_studies Langue: En Journal: JIMD Rep Année: 2021 Type de document: Article