Article
Molecular prenatal diagnosis of glycogen storage disease type Ia.
Prenatal diagnosis - 1 Apr 1996
Qu Y, Abdenur J E, Eng C M, Desnick R J
Abstract excerpt
Glycogen storage disease type Ia (GSD Ia, von Gierke disease) is an autosomal recessive inborn error of metabolism caused by the deficiency of D-glucose-6-phosphatase (G6Pase). Since this enzyme is expressed primarily in hepatocytes, couples at risk for GSD type Ia relied on fetal liver biopsy fo...
Topics
- Base Sequence
- Cells, Cultured
- Chorionic Villi Sampling
- DNA
- Female
- Glucose-6-Phosphatase
- Glycogen Storage Disease Type I
- Heterozygote
- Humans
- Infant, Newborn
- Jews
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Pregnancy
- Pregnancy Outcome
- Pregnancy Trimester, First