A Clinical and Biochemical CamouflageCarnitine Palmitoyltransferase-1 Deficiency: A Case Series
Carnitine Palmitoyltransferase-1 (CPT-1) deficiency is a rare metabolic disorder of fatty acid oxidation. The presentation of this deficiency is a mixed bag of several clinical and biochemical manifestations which is determined by the tissue-specific isoforms of the enzyme. Presenting in one way, wh...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2018-02-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/11164/29861_F(GG)_PF1_(BT_PB_SL)_PFA_(NC_MJ_AnG)_PN(SL).pdf |