Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic <i>GLUT2</i> (<i>SLC2A2</i>) Variants.

Grünert, Sarah C; Schumann, Anke; Baronio, Federico; Tsiakas, Konstantinos; Murko, Simona; Spiekerkoetter, Ute; Santer, René

Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants.

Grünert, Sarah C; Schumann, Anke; Baronio, Federico; Tsiakas, Konstantinos; Murko, Simona; Spiekerkoetter, Ute; Santer, René.

Afiliação

Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center-University of Freiburg, 79106 Freiburg, Germany.
Schumann A; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center-University of Freiburg, 79106 Freiburg, Germany.
Baronio F; Pediatric Unit, Department of Medical and Surgical Sciences, Regional Center for Expanded Newborn Screening, S. Orsola-Malpighi University Hospital, 40138 Bologna, Italy.
Tsiakas K; Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany.
Murko S; Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany.
Spiekerkoetter U; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center-University of Freiburg, 79106 Freiburg, Germany.
Santer R; Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany.

Genes (Basel) ; 12(11)2021 11 10.

Article em En | MEDLINE | ID: mdl-34828390

Assuntos

Síndrome de Fanconi/genética; Transportador de Glucose Tipo 2/genética; Mutação; Fenótipo; Adolescente; Adulto; Animais; Síndrome de Fanconi/patologia; Feminino; Genótipo; Glucose/metabolismo; Transportador de Glucose Tipo 2/metabolismo; Homozigoto; Humanos; Lactente; Masculino; Linhagem; Xenopus

Palavras-chave

Fanconi-Bickel syndrome; GLUT2; SLC2A2; genotype-phenotype correlation; glucosuria; glycogen storage disease

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Transportador de Glucose Tipo 2 / Síndrome de Fanconi / Mutação Limite: Adolescent / Adult / Animals / Female / Humans / Infant / Male Idioma: En Revista: Genes (Basel) Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Suíça

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