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A Turkish patient with novel AHCY variants and presumed diagnosis of S-adenosylhomocysteine hydrolase deficiency.
Bas, Hasan; Cilingir, Oguz; Tekin, Neslihan; Saylisoy, Suzan; Durak Aras, Beyhan; Uzay, Elif; Erzurumluoglu Gokalp, Ebru; Artan, Sevilhan.
Affiliation
  • Bas H; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
  • Cilingir O; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
  • Tekin N; Division of Neonatology, Department of Pediatrics, Eskisehir Osmangazi University, Faculty of Medicine, Eskisehir, Turkey.
  • Saylisoy S; Department of Radiology, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
  • Durak Aras B; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
  • Uzay E; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
  • Erzurumluoglu Gokalp E; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
  • Artan S; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
Am J Med Genet A ; 182(4): 740-745, 2020 04.
Article in En | MEDLINE | ID: mdl-31957987
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Adenosylhomocysteinase / Glycine N-Methyltransferase / Amino Acid Metabolism, Inborn Errors / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Turkey Country of publication: United States
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Adenosylhomocysteinase / Glycine N-Methyltransferase / Amino Acid Metabolism, Inborn Errors / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Turkey Country of publication: United States