Normal view MARC view ISBD view

Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation.

Longo, N

Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation. [electronic resource] - Journal of inherited metabolic disease 2004 - 691-2 p. digital

Publication Type: Case Reports; Journal Article

ISSN: 0141-8955

Standard No.: 10.1023/b:boli.0000043023.57321.18 doi

Subjects--Topical Terms:
Acidosis--genetics
Child, Preschool
Coenzyme A-Transferases--deficiency
Consanguinity
Dialysis
Female
Homozygote
Humans
Mutation
Time Factors

Print
Cite
Add to your cart (remove)
Save record
BIBTEX Dublin Core MARCXML MARC (non-Unicode/MARC-8) MARC (Unicode/UTF-8) MARC (Unicode/UTF-8, Standard) MODS (XML) RIS ISBD
More searches

Search for this title in:
Other Libraries (WorldCat) Other Databases (Google Scholar) Online Stores (Bookfinder.com) Open Library (openlibrary.org)