Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey.

Önenli-Mungan, Neslihan; Kör, Deniz; Karabay-Bayazit, Aysun; Cengiz, Nurcan; Yavuz, Sevgi; Noyan, Aytül; Ceylaner, Gülay; Seker-Yilmaz, Berna; Topaloglu, Ali Kemal; Yüksel, Bilgin; Anarat, Ali

Önenli-Mungan, Neslihan; Kör, Deniz; Karabay-Bayazit, Aysun; Cengiz, Nurcan; Yavuz, Sevgi; Noyan, Aytül; Ceylaner, Gülay; Seker-Yilmaz, Berna; Topaloglu, Ali Kemal; Yüksel, Bilgin; Anarat, Ali.

Afiliação

Önenli-Mungan N; Divisions of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana.
Kör D; Divisions of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana.
Karabay-Bayazit A; Pediatric Nephrology, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana.
Cengiz N; Division of Pediatric Nephrology, Department of Pediatrics, Baskent University Faculty of Medicine, Adana.
Yavuz S; Pediatric Nephrology, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana.
Noyan A; Division of Pediatric Nephrology, Department of Pediatrics, Baskent University Faculty of Medicine, Adana.
Ceylaner G; Intergen Genetic Laboratory, Ankara, Turkey.
Seker-Yilmaz B; Divisions of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana.
Topaloglu AK; Divisions of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana.
Yüksel B; Divisions of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana.
Anarat A; Divisions of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana.

Turk J Pediatr ; 58(4): 362-370, 2016.

Article em En | MEDLINE | ID: mdl-28276207

Assuntos

Sistemas de Transporte de Aminoácidos Neutros/genética; Cistinose/genética; Adolescente; Criança; Pré-Escolar; Feminino; Genótipo; Humanos; Lactente; Masculino; Mutação; Linhagem; Fenótipo; Turquia; Adulto Jovem

Palavras-chave

CTNS; Fanconi syndrome; cystinosin; cystinosis; mutations

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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cistinose / Sistemas de Transporte de Aminoácidos Neutros Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2016 Tipo de documento: Article

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