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CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
Known as:
Carnitine Palmitoyltransferase II Deficiency, Hepatocardiomuscular
, CPT2 DEFICIENCY, INFANTILE
, CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA
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National Institutes of Health
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Related topics
Related topics
11 relations
Autosomal recessive inheritance
Cardiomyopathy, Dilated
Hyperammonemia
Lethargy
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Broader (4)
Carnitine O-Palmitoyltransferase
Hypoglycemia
Lipid Metabolism, Inborn Errors
Liver diseases
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
1994
1994
Prenatal diagnosis of a defect in mediumchain fatty acid oxidation
R. Pollitt
,
N. Manning
,
S. Olpin
,
I. Young
Journal of Inherited Metabolic Disease
1994
Corpus ID: 22756981
In 1982, KOlvraa and colleagues demonstrated that a patient with intermittent hypoketotic C 6 -C 10 dicarboxylic aciduria and a…
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