Novel compound heterozygous mutations in the fructose-1,6-bisphosphatase gene cause hypoglycemia and lactic acidosis

Metabolism: Clinical and Experimental

Volumn 60, Issue 1, 2011, Pages 107-113

  Moon, Sungdae ^a   Kim, Ju Hee ^a   Han, Je Ho ^a   Ko, Seung Hyun ^b   Ahn, Yu Bae ^b   Kim, Ju Hoon ^c   Yang, Song Hyun ^c   Song, Ki Ho ^d  

^a Bupyeong gu   (South Korea)

^b The Catholic University of Korea   (South Korea)

^c Green Cross Reference Laboratory   (South Korea)

^d The Catholic University of Korea   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

CELL ENZYME; FRUCTOSE 2,6 BISPHOSPHATASE; FRUCTOSE BISPHOSPHATASE; GENOMIC DNA; GLUCOSE; LACTIC ACID; LIVER ENZYME; MESSENGER RNA;

ADULT; ALLELE; ANAMNESIS; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL CULTURE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FBP 1 GENE; FRAMESHIFT MUTATION; FRUCTOSE BISPHOSPHATASE DEFICIENCY; GENE; GENE CONSTRUCT; GENE DELETION; GENE OVEREXPRESSION; GLUCOSE BLOOD LEVEL; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOGLYCEMIA; LACTATE BLOOD LEVEL; LACTIC ACIDOSIS; LEUKOCYTE; LIVER BIOPSY; MALE; NONHUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; TRANSIENT TRANSFECTION;

ACIDOSIS, LACTIC; ADULT; ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; FRUCTOSE-BISPHOSPHATASE; HETEROZYGOTE; HUMANS; HYPOGLYCEMIA; MALE; MUTATION;

EID: 78649906176     PISSN: 00260495     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.metabol.2009.12.021     Document Type: Article

References (15)

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