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...
主要な著者: | , , , , , , , , |
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フォーマット: | 論文 |
言語: | English |
出版事項: |
Wiley
2022-07-01
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シリーズ: | JIMD Reports |
主題: | |
オンライン・アクセス: | https://doi.org/10.1002/jmd2.12284 |