Pyridoxine-sensitive X-linked 'sideroblastic' anaemia in the absence of ring sideroblasts - molecular diagnosis.

Creasey, Thomas; Biss, Tina; Lambert, John; Smith, Frances; Clark, Barnaby; Carey, Peter

Creasey, Thomas; Biss, Tina; Lambert, John; Smith, Frances; Clark, Barnaby; Carey, Peter.

Affiliation

Creasey T; Haematology Department, Royal Victoria Infirmary, Newcastle-upon-Tyne Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK.
Biss T; Haematology Department, Royal Victoria Infirmary, Newcastle-upon-Tyne Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK.
Lambert J; Haematology Department, Royal Victoria Infirmary, Newcastle-upon-Tyne Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK.
Smith F; Viapath, King's College Hospital NHS Foundation Trust, Denmark Hill, London, UK.
Clark B; Viapath, King's College Hospital NHS Foundation Trust, Denmark Hill, London, UK.
Carey P; Haematology Department, Royal Victoria Infirmary, Newcastle-upon-Tyne Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK.

Br J Haematol ; 180(1): 10, 2018 01.

Article in En | MEDLINE | ID: mdl-29105823

Subject(s)

Anemia, Sideroblastic/diagnosis; Anemia, Sideroblastic/genetics; Erythrocytes/pathology; Genetic Association Studies; Genetic Predisposition to Disease; 5-Aminolevulinate Synthetase/genetics; Alleles; Anemia, Sideroblastic/drug therapy; Child, Preschool; Genes, X-Linked; Humans; Male; Mutation; Pyridoxine/pharmacology; Pyridoxine/therapeutic use

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Predisposition to Disease / Erythrocytes / Genetic Association Studies / Anemia, Sideroblastic Type of study: Diagnostic_studies / Prognostic_studies Limits: Child, preschool / Humans / Male Language: En Journal: Br J Haematol Year: 2018 Type: Article Affiliation country: United kingdom

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