Congenital sucrase-isomaltase deficiency: Identification of a common Inuit founder mutation

CMAJ

Volumn 187, Issue 2, 2015, Pages 102-107

  Marcadier, Julien L ^a   Boland, Margaret ^a   Scott, C Ronald ^b   Issa, Kheirie ^a   Wu, Zaining ^b   McIntyre, Adam D ^c   Hegele, Robert A ^c   Geraghty, Michael T ^a   Lines, Matthew A ^a  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c ROBARTS RESEARCH INSTITUTE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; GLUCOSE; SUCRASE ISOMALTASE;

ABDOMINAL DISTENSION; ALERTNESS; ARTICLE; BODY WEIGHT; BOTTLE FEEDING; CANADA; CANADIAN; CHRONIC DIARRHEA; CONGENITAL SUCRASE ISOMALTASE DEFICIENCY; CONTROLLED STUDY; DNA ISOLATION; ENZYME DEFICIENCY; EXON; FAILURE TO THRIVE; FEMALE; FLUID THERAPY; FOUNDER EFFECT; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC SCREENING; GENOTYPE; HOMOZYGOSITY; HUMAN; HYPOTENSION; HYPOTHERMIA; INUIT; MALABSORPTION; MUSCLE HYPOTONIA; NEWBORN; PNEUMONIA; POLYMERASE CHAIN REACTION; PREMATURITY; PREVALENCE; PROTEIN EXPRESSION; SEPSIS; SYMPTOMATOLOGY; TRANSLATION INITIATION; CARBOHYDRATE METABOLISM, INBORN ERRORS; CASE CONTROL STUDY; DEFICIENCY; EPIDEMIOLOGY; ETHNOLOGY; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE;

CANADA; CARBOHYDRATE METABOLISM, INBORN ERRORS; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; GENOTYPE; HUMANS; INFANT, NEWBORN; INUITS; MUTATION; SUCRASE-ISOMALTASE COMPLEX;

EID: 84922245011     PISSN: 08203946     EISSN: 14882329     Source Type: Journal    
DOI: 10.1503/cmaj.140657     Document Type: Article

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