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A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report.
Sivashangar, Ahalyaa; Gooneratne, Lallindra; Clark, Barnaby; Rees, David; Jayasinghe, Saroj; Laas, Claire.
Affiliation
  • Sivashangar A; Department of Pathology, Faculty of Medicine, University of Colombo, 25, Kynsey Road, Colombo 8, Sri Lanka. nallathambisivashankar@yahoo.com.
  • Gooneratne L; Department of Pathology, Faculty of Medicine, University of Colombo, 25, Kynsey Road, Colombo 8, Sri Lanka.
  • Clark B; Department of Molecular Pathology, Viapath at King's College Hospital, King's College Hospital, London, SE5 9RS, UK.
  • Rees D; Department of Paediatric Haematology, King's College Hospital, London, SE5 9RS, UK.
  • Jayasinghe S; Department of Clinical Medicine, Faculty of Medicine, University of Colombo, 25, Kynsey Road, Colombo 8, Sri Lanka.
  • Laas C; Department of Molecular Pathology, Viapath at King's College Hospital, King's College Hospital, London, SE5 9RS, UK.
J Med Case Rep ; 15(1): 374, 2021 Jul 27.
Article in En | MEDLINE | ID: mdl-34311792

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pyruvate Metabolism, Inborn Errors / Anemia, Hemolytic, Congenital Nonspherocytic Type of study: Prognostic_studies Limits: Child / Female / Humans / Newborn Language: En Journal: J Med Case Rep Year: 2021 Document type: Article Affiliation country: Sri Lanka Country of publication: Reino Unido

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pyruvate Metabolism, Inborn Errors / Anemia, Hemolytic, Congenital Nonspherocytic Type of study: Prognostic_studies Limits: Child / Female / Humans / Newborn Language: En Journal: J Med Case Rep Year: 2021 Document type: Article Affiliation country: Sri Lanka Country of publication: Reino Unido