Glucose-6-phosphatase gene mutations in Turkish patients with glycogen storage disease type Ia

Journal of Inherited Metabolic Disease

Volumn 24, Issue 8, 2001, Pages 881-882

  Terzioglu, M ^a   Emre, S ^a   Ozen H ^a   SaltIk, I N ^a   Kocak N ^a   Ciliv, G ^a   Yuce A ^a   Gurakan F ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CHOLESTEROL; DNA; GLUCOSE 6 PHOSPHATASE; LACTIC ACID; MEMBRANE PROTEIN; TRIACYLGLYCEROL; URIC ACID;

ARTICLE; CHOLESTEROL BLOOD LEVEL; CHROMOSOME 17; CLINICAL ARTICLE; CONTROLLED STUDY; DNA EXTRACTION; ENZYME DEFICIENCY; FREQUENCY ANALYSIS; GENE AMPLIFICATION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 1; HOMOZYGOSITY; HUMAN; HUMAN CELL; LACTATE BLOOD LEVEL; LIVER BIOPSY; PHENOTYPE; TRIACYLGLYCEROL BLOOD LEVEL; TURKEY (REPUBLIC); URIC ACID BLOOD LEVEL;

ALLELES; CHILD, PRESCHOOL; CONSANGUINITY; GENE FREQUENCY; GENOTYPE; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; HOMOZYGOTE; HUMANS; INFANT; LIVER; MUTATION; PHENOTYPE; TURKEY;

EID: 0035719437     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1013956611607     Document Type: Article

References (3)

1. Mutation analysis in 24 French patients with glycogen storage disease type 1a
2. Molecular aspects of glycogen storage disease type Ia in Turkish patients: A novel mutation in the glucose-6-phosphatase gene
3. Glycogen storage disease type 1a; recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart