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2 articles related to "Cpt Ii Deficiency"

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Articles

Case Report

Published on 22 May 2019

Unrecognized High Occurrence of Genetically Confirmed Hereditary Carnitine Palmitoyltransferase II Deficiency in an Austrian Family Points to the Ongoing Underdiagnosis of the Disease

in Genetics of Common and Rare Diseases

Christina Zach
Karl Unterkofler
Peter Fraunberger
Heinz Drexel
Axel Muendlein

Frontiers in Genetics

doi 10.3389/fgene.2019.00497

8,489 views
7 citations

Case Report

Published on 18 Nov 2025

Case Report: Lethal neonatal form of CPT II deficiency in consecutive pregnancies: fetal-neonatal characteristics, biochemical and molecular review

in Neonatology

Y. Y. Tan
K. G. Tewani
A. J. Anand
C. X. Kong
V. S. Rajadurai
S. Chandran

Frontiers in Pediatrics

doi 10.3389/fped.2025.1648282

1,394 views