Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:3.1.3.9 (
glucose-6-phosphatase
)
3,081
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
This year has seen major progress in gene therapy, particularly that directed to the liver. Genes have been characterized for Wilson's disease, Krabbe's disease, Canavan's disease, adrenoleukodystrophy,
glucose-6-phosphatase
, and long-chain 3-hydroxyacyl-CoA dehydrogenase. Moreover, the identification of common mutations in many conditions promises to help with diagnosis and genetic counseling. The drama of progress in molecular biology can easily overshadow other research, but the application of tandem mass spectrometry to neonatal screening is a major advance. Other important papers concern the use of Lorenzo's oil in adrenoleukodystrophy and revised dietary recommendations for the treatment of
phenylketonuria
. This review focuses predominantly on diseases that affect the brain, but important advances in other conditions have been included.
...
PMID:Metabolic disorders in children. 786 86
