Management of pregnancy in a patient with long‐chain 3‐hydroxyacyl CoA dehydrogenase deficiency
Abstract Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is a rare mitochondrial defect of β‐oxidation of long‐chain fatty acids. Patients may present with muscle pain, hypotonia, peripheral neuropathy, cardiomyopathy, recurrent rhabdomyolysis and sudden death. Dietary management of L...
| Hlavní autoři: | , , , , , , , , |
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| Médium: | Článek |
| Jazyk: | English |
| Vydáno: |
Wiley
2022-07-01
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| Edice: | JIMD Reports |
| Témata: | |
| On-line přístup: | https://doi.org/10.1002/jmd2.12284 |