Permanent Neonatal Diabetes Caused by Glucokinase Deficiency: Inborn Error of the Glucose-Insulin Signaling Pathway

Diabetes

Volumn 52, Issue 11, 2003, Pages 2854-2860

  Njølstad, Pål R ^a,e   Sagen, Jørn V ^a   Bjørkhaug, Lise ^a   Odili, Stella ^b   Shehadeh, Naim ^c   Bakry, Doua ^c   Sarici, S Umit ^d   Alpay, Faruk ^d   Molnes, Janne ^a   Molven, Anders ^a   Søvik, Oddmund ^a   Matschinsky, Franz M ^b  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c RAMBAM MEDICAL CENTER   (Israel)

^d GULHANE SCHOOL OF MEDICINE   (Turkey)

^e UNIVERSITY OF BERGEN   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; GLUCOKINASE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BIRTH WEIGHT; CASE REPORT; CLINICAL PATHWAY; DIABETES MELLITUS; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GLUCOKINASE DEFICIENCY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERGLYCEMIA; INTRAUTERINE GROWTH RETARDATION; MALE; MISSENSE MUTATION; NEWBORN; NEWBORN DISEASE; PEDIGREE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION;

BASE SEQUENCE; CARBOHYDRATE METABOLISM, INBORN ERRORS; DIABETES MELLITUS; DNA PRIMERS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENETIC MARKERS; GLUCOKINASE; GLUCOSE; HUMANS; INFANT, NEWBORN; INSULIN; INTRONS; KINETICS; MALE; MODELS, MOLECULAR; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PROMOTER REGIONS (GENETICS); PROTEIN CONFORMATION; SIGNAL TRANSDUCTION;

EID: 10744222821     PISSN: 00121797     EISSN: None     Source Type: Journal    
DOI: 10.2337/diabetes.52.11.2854     Document Type: Article

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