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Named diseases, disorders, syndromes, injuries, and health conditions. Examples include epilepsy, diabetes, stroke.

2articles mentioning diseases
3disease mentions
1distinct diseases extracted
0%of mentions human-reviewed
Active filtersEntity: medium chain acyl-CoA dehydrogenase deficiency ×

medium chain acyl-CoA dehydrogenase deficiency

This disease is selected. Its supporting articles are shown below.

medium chain acyl-CoA dehydrogenase deficiency2

Articles mentioning medium chain acyl-CoA dehydrogenase deficiency

2 articles · page 1 of 1
98.3%
medium chain acyl-CoA dehydrogenase deficiencyheritable retinoblastomafamilial haemophagocytic lymphohistiocytosisX linked hypophosphataemic ricketspyridoxine dependent epilepsysevere combined immunodeficiencyIL2RGrare monogenic diseases15pathogenic variantsbiotinidase deficiency+1 more

…emic rickets, familial haemophagocytic lymphohistiocytosis, and medium chain acyl-CoA dehydrogenase deficiency.SP110.1136/bmjmed-2025-001726.supp1Supplementary dataData sourc…

97.8%
medium chain acyl-CoA dehydrogenase deficiencypyridoxine dependent epilepsyheritable retinoblastomaX linked hypophosphataemic ricketsfamilial haemophagocytic lymphohistiocytosisEmbaseGenomics EnglandMedline

…emic rickets, familial haemophagocytic lymphohistiocytosis, and medium chain acyl-CoA dehydrogenase deficiency. 19 689 titles were screened and 268 papers included that addre…