Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations-Reference-Cited by-同舟云学术

Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations

Published:2002-11 Issue:5 Volume:141 Page:734-736
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Vladutiu Georgirene D.,Quackenbush Elizabeth J.,Hainline Bryan E.,Albers Simone,Smail David S.,Bennett Michael J.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference12 articles.

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3. Novel mutations associated with carnitine palmitoyltransferase II deficiency;Taggart;Hum Mutat,1999

4. Antenatal presentation of carnitine palmitoyltransferase II deficiency;Elpeleg;Am J Med Genet,2001

5. Carnitine palmitoyltransferase deficiencies;Bonnefont;Mol Genet Metab,1999

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