A case of hereditary coproporphyria with posterior reversible encephalopathy and novel coproporphyrinogen oxidase gene mutation c.863T>G (p.Leu288Trp).

Lambie, Deborah; Florkowski, Chris; Sies, Chris; Raizis, Anthony; Siu, Wai-Kwan; Towns, Cindy

Lambie, Deborah; Florkowski, Chris; Sies, Chris; Raizis, Anthony; Siu, Wai-Kwan; Towns, Cindy.

Afiliação

Lambie D; 1 Department of General Medicine, Wellington Hospital, Wellington, New Zealand.
Florkowski C; 2 Clinical Biochemistry Unit, Canterbury Health Laboratories, Christchurch, New Zealand.
Sies C; 2 Clinical Biochemistry Unit, Canterbury Health Laboratories, Christchurch, New Zealand.
Raizis A; 2 Clinical Biochemistry Unit, Canterbury Health Laboratories, Christchurch, New Zealand.
Siu WK; 3 Department of Biochemistry, Wellington Southern Community Laboratories, Wellington, New Zealand.
Towns C; 1 Department of General Medicine, Wellington Hospital, Wellington, New Zealand.

Ann Clin Biochem ; 55(5): 616-619, 2018 Sep.

Article em En | MEDLINE | ID: mdl-29660996

Assuntos

Encefalopatias/complicações; Coproporfiria Hereditária; Coproporfirinogênio Oxidase/genética; Síndrome da Leucoencefalopatia Posterior/complicações; Coproporfiria Hereditária/complicações; Coproporfiria Hereditária/genética; Diagnóstico Precoce; Feminino; Humanos; Mutação; Adulto Jovem

Palavras-chave

DNA and RNA techniques; Haemoglobin disorders; neurological disorders

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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