Biochemical and molecular studies of carnitine palmitoyltransferase II deficiency with hepatocardiomyopathic presentation

Prog Clin Biol Res. 1992:375:521-31.

Authors

F Taroni¹, E Verderio, B Garavaglia, S Fiorucci, G Finocchiaro, G Uziel, S DiDonato

Affiliation

¹ Divisione di Biochimica e Genetica, Istituto Nazionale Neurologico C. Besta, Milan, Italy.

PMID: 1438396

No abstract available

Publication types

Case Reports

MeSH terms

Base Sequence
Cardiomyopathies / enzymology
Cardiomyopathies / genetics*
Carnitine O-Palmitoyltransferase / biosynthesis
Carnitine O-Palmitoyltransferase / deficiency*
Carnitine O-Palmitoyltransferase / genetics
Child, Preschool
Cloning, Molecular
DNA / analysis
Genome, Human
Humans
Hypoglycemia / enzymology
Hypoglycemia / genetics*
Liver Diseases / enzymology
Liver Diseases / genetics*
Male
Metabolism, Inborn Errors / enzymology
Metabolism, Inborn Errors / genetics*
Molecular Sequence Data
Mutation / genetics
RNA, Messenger / genetics

Substances

RNA, Messenger
DNA
Carnitine O-Palmitoyltransferase