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Management of pregnancy in a patient with long‐chain 3‐hydroxyacyl CoA dehydrogenase deficiency

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 LCHADD aim...

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Detalles Bibliográficos
Autores principales: Shakerdi, Loai A., McNulty, Jenny, Gillman, Barbara, McCarthy, Claire M., Ivory, Jessica, Sheerin, Alison, O'Byrne, James J., Donnelly, Jennifer C., Treacy, Eileen P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259390/
https://www.ncbi.nlm.nih.gov/pubmed/35822088
http://dx.doi.org/10.1002/jmd2.12284