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Infantile carnitine palmitoyltransferase II deficiency

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Infantile carnitine palmitoyltransferase II deficiency" returned 0 free, full-text review articles. First 0 results:
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Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Infantile carnitine palmitoyltransferase II deficiency" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Infantile carnitine palmitoyltransferase II deficiency" returned 1 free, full-text research articles. First 1 results:
Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibs.
Last Updated: Feb 03, 2010

Antenatal presentation of carnitine palmitoyltransferase type II deficiency due to mutations in the CPT2 gene has been rarely reported. We report an Ashkenazi Jewish family with 3 terminated pregnancies for multicystic kidneys and/or hydrocephalus. Fetal autopsy after termination ...

CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
Last Updated: Jul 14, 2008

Three distinct clinical manifestations of carnitine palmitoyltransferase II (CPT II) deficiency have been defined including a mild adult onset myopathy, a severe infantile disorder and a lethal neonatal form. In this study we have examined the genomic DNA of five patients, 3 with ...

Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.
Last Updated: Jan 14, 2019

We report a patient with severe infantile carnitine palmitoyltransferase II (CPT II) deficiency who died at the age of 3 months. Genetic analysis of the CPT2 gene revealed that the patient was homozygous, and her parents were heterozygous, for a R503C missense mutation. Heterozygosity ...

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