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

Clinical Genetics

Volumn 71, Issue 6, 2007, Pages 551-557

  Hoffman, Trevor L ^a   Blanco, E ^b   Lane, A ^b   Galvin Parton, P ^b   Gadi, I ^c   Santer, R ^d   DeLeon D ^e   Stanley, C ^e   Wilson, T A ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b STONY BROOK UNIVERSITY   (United States)

^c LABORATORY CORPORATION OF AMERICA   (United States)

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

ABCC8; Fanconi Bickel syndrome; GLUT2; Hyperinsulinism; Hypoglycemia; SUR1; Uniparental disomy

Indexed keywords

CELL PROTEIN; DIAZOXIDE; GLUCOCORTICOID; GLUCOSE; GLUCOSE TRANSPORTER 2; GROWTH HORMONE; HYDROCORTISONE; INSULIN; LEVOTHYROXINE; OCTREOTIDE; PROTEIN ABCC8; UNCLASSIFIED DRUG; VITAMIN D;

AMINOACIDURIA; ARTICLE; CASE REPORT; CHROMOSOME 3; DISEASE SEVERITY; FANCONI BICKEL SYNDROME; FANCONI RENOTUBULAR SYNDROME; FEMALE; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; GLUCOSE BLOOD LEVEL; GLUCOSE METABOLISM; GLUCOSURIA; GROWTH DISORDER; GROWTH HORMONE BLOOD LEVEL; HEPATOMEGALY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERAMMONEMIA; HYPERINSULINISM; HYPOGLYCEMIA; INSULIN BLOOD LEVEL; INSULIN RELEASE; KARYOTYPING; METABOLIC DISORDER; PRESCHOOL CHILD; PRIORITY JOURNAL; RICKETS; SEIZURE; TANDEM REPEAT; UNIPARENTAL DISOMY; URINALYSIS; WILD TYPE;

ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 3; DNA MUTATIONAL ANALYSIS; GLUCOSE; GLUCOSE TRANSPORTER TYPE 2; GLYCOGEN STORAGE DISEASE; HUMANS; INFANT; INSULIN; MOTHERS; MUTATION; POTASSIUM CHANNELS; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG; SYNDROME; UNIPARENTAL DISOMY;

EID: 34249679732     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00802.x     Document Type: Article

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