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Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal MeSH Supplementary Concept Data 2024


MeSH Supplementary
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
Unique ID
C563463
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C563463
Entry Term(s)
CPT II Deficiency, Lethal Neonatal
CPT2 Deficiency, Lethal Neonatal
Carnitine Palmitoyltransferase II Deficiency, Antenatal
Carnitine Palmitoyltransferase II Deficiency, Neonatal
Registry Number
0
Heading Mapped to
Carnitine O-Palmitoyltransferase / *deficiency
*Infant, Newborn, Diseases
*Mitochondrial Diseases
Frequency
1
Note
mutation in CPT2
Date of Entry
2012/11/05
Revision Date
2013/11/06
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal Preferred
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