Strategies for the prenatal diagnosis of primary hyperoxaluria type 1.

doi:10.1002/(SICI)1097-0223(199607)16:7<587::AID-PD925>3.0.CO;2-9

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Article

Strategies for the prenatal diagnosis of primary hyperoxaluria type 1.

Prenatal diagnosis - 1 Jul 1996

Danpure C J, Rumsby G

Abstract excerpt

Primary hyperoxaluria type 1 (PH1) is a potentially lethal autosomal recessive disorder of glyoxylate metabolism caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). Over the past 13 years, various strategies have been adopted for its prenatal...

Topics

Alleles
Female
Fetal Diseases
Genetic Linkage
Humans
Hyperoxaluria, Primary
Liver
Male
Point Mutation
Polymerase Chain Reaction
Polymorphism, Genetic
Pregnancy
Prenatal Diagnosis
Transaminases

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