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Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy.
Olgac, Asburce; Kasapkara, Cigdem Seher; Kilic, Mustafa; Keskin, Ebru Yilmaz; Sandal, Gonca; Cram, David Stephen; Haberle, Johannes; Torun, Deniz.
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  • Olgac A; Department of Pediatric Metabolism, Dr. Sami Ulus Maternity and Child Health Training and Research Hospital, Ankara, Turkey.
  • Kasapkara CS; Department of Pediatric Metabolism, Dr. Sami Ulus Maternity and Child Health Training and Research Hospital, Ankara, Turkey.
  • Kilic M; Department of Pediatric Metabolism, Dr. Sami Ulus Maternity and Child Health Training and Research Hospital, Ankara, Turkey.
  • Keskin EY; Department of Pediatric Hematology and Oncology, Süleyman Demirel University Medical Faculty, Isparta, Turkey.
  • Sandal G; Department of Neonatology, Süleyman Demirel University Medical Faculty, Isparta, Turkey.
  • Cram DS; Berry Genomics Corporation, Beijing, 100015, China.
  • Haberle J; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
  • Torun D; Department of Medical Genetics, Gulhane Faculty of Medicine, University of Health Sciences, Ankara, Turkey.
J Pediatr Endocrinol Metab ; 33(10): 1349-1352, 2020 Aug 18.
Article en En | MEDLINE | ID: mdl-32809955
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Hiperamonemia / Anhidrasa Carbónica V / Mutación Tipo de estudio: Prognostic_studies Límite: Female / Humans / Newborn Idioma: En Revista: J Pediatr Endocrinol Metab Asunto de la revista: ENDOCRINOLOGIA / PEDIATRIA Año: 2020 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Hiperamonemia / Anhidrasa Carbónica V / Mutación Tipo de estudio: Prognostic_studies Límite: Female / Humans / Newborn Idioma: En Revista: J Pediatr Endocrinol Metab Asunto de la revista: ENDOCRINOLOGIA / PEDIATRIA Año: 2020 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Alemania