Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5&#945;-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case.

Kousal, B; Honzík, T; Hansíková, H; Ondrusková, N; Cechová, A; Tesarová, M; Stránecký, V; Meliska, M; Michaelides, M; Lisková, P

Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case.

Kousal, B; Honzík, T; Hansíková, H; Ondrusková, N; Cechová, A; Tesarová, M; Stránecký, V; Meliska, M; Michaelides, M; Lisková, P.

Afiliação

Kousal B; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Honzík T; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Hansíková H; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Ondrusková N; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Cechová A; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Tesarová M; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Stránecký V; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Meliska M; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Michaelides M; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Lisková P; Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.

Folia Biol (Praha) ; 65(3): 134-141, 2019.

Article em En | MEDLINE | ID: mdl-31638560

Assuntos

3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética; Defeitos Congênitos da Glicosilação/enzimologia; Defeitos Congênitos da Glicosilação/genética; Olho/patologia; Proteínas de Membrana/genética; Mutação/genética; 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/química; Sequência de Aminoácidos; Sequência de Bases; Criança; Feminino; Homozigoto; Humanos; Masculino; Proteínas de Membrana/química; Linhagem; Fenótipo

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Base de dados: MEDLINE Assunto principal: 3-Oxo-5-alfa-Esteroide 4-Desidrogenase / Defeitos Congênitos da Glicosilação / Olho / Proteínas de Membrana / Mutação Tipo de estudo: Diagnostic_studies Limite: Child / Female / Humans / Male Idioma: En Revista: Folia Biol (Praha) Ano de publicação: 2019 Tipo de documento: Article País de afiliação: República Tcheca

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