Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3.

Hoffman, T L; Blanco, E; Lane, A; Galvin-Parton, P; Gadi, I; Santer, R; DeLeón, D; Stanley, C; Wilson, T A

Hoffman, T L; Blanco, E; Lane, A; Galvin-Parton, P; Gadi, I; Santer, R; DeLeón, D; Stanley, C; Wilson, T A.

Affiliation

Hoffman TL; Division of Human Genetics and Birth Defects, Department of Pediatrics, University of California, Irvine, CA 92697-2300, USA. thoffman@uci.edu

Clin Genet ; 71(6): 551-7, 2007 Jun.

Article in En | MEDLINE | ID: mdl-17539904

Subject(s)

ATP-Binding Cassette Transporters/genetics; Chromosomes, Human, Pair 3/genetics; Glycogen Storage Disease/pathology; Mutation; Potassium Channels, Inwardly Rectifying/genetics; Potassium Channels/genetics; Receptors, Drug/genetics; Base Sequence; DNA Mutational Analysis; Glucose/metabolism; Glucose Transporter Type 2/genetics; Glycogen Storage Disease/genetics; Glycogen Storage Disease/metabolism; Humans; Infant; Insulin/metabolism; Insulin Secretion; Mothers; Sulfonylurea Receptors; Syndrome; Uniparental Disomy

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Collection: 01-internacional Database: MEDLINE Main subject: Receptors, Drug / Chromosomes, Human, Pair 3 / Potassium Channels / Glycogen Storage Disease / ATP-Binding Cassette Transporters / Potassium Channels, Inwardly Rectifying / Mutation Limits: Humans / Infant Language: En Journal: Clin Genet Year: 2007 Document type: Article Affiliation country: United States Country of publication: Denmark

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